Canonical Allele Identifier: CA590753291

Gene: POMT1

Linked Data

• dbSNP Id: rs1475725013
• gnomAD v2: 9-134391256-T-TCC
• gnomAD v3: 9-131515869-T-TCC
• gnomAD v4: 9-131515869-T-TCC
• MyVariant Identifiers: chr9:g.134391256_134391257insCC (hg19) ; chr9:g.131515869_131515870insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515869_131515870insCC , CM000671.2:g.131515869_131515870insCC	GRCh38
NC_000009.11:g.134391256_134391257insCC , CM000671.1:g.134391256_134391257insCC	GRCh37
NC_000009.10:g.133381077_133381078insCC	NCBI36
NG_008896.1:g.17968_17969insCC
NG_008896.2:g.17968_17969insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+347_1110+348insCC	ENSP00000343034.7:n.1110+347_1110+348insCC
ENST00000404875.7:n.1812+347_1812+348insCC
ENST00000423007.6:c.1329+347_1329+348insCC	ENSP00000404119.2:n.1329+347_1329+348insCC
ENST00000677295.2:c.*1616+347_*1616+348insCC	ENSP00000504346.2:n.*1616+347_*1616+348insCC
ENST00000678264.2:c.*1455+347_*1455+348insCC	ENSP00000503157.2:n.*1455+347_*1455+348insCC
ENST00000682070.1:n.1737+347_1737+348insCC
ENST00000682539.1:c.97+347_97+348insCC
ENST00000682813.1:n.1537+347_1537+348insCC
ENST00000683392.1:n.4019+347_4019+348insCC
ENST00000683712.1:n.1677+347_1677+348insCC
ENST00000683900.1:n.3172+347_3172+348insCC
ENST00000684062.1:n.1938+347_1938+348insCC
ENST00000684579.1:n.3118+347_3118+348insCC
ENST00000341012.12:c.1110+347_1110+348insCC	ENSP00000343034.7:n.1110+347_1110+348insCC
ENST00000372220.5:c.141+347_141+348insCC	ENSP00000361294.5:n.141+347_141+348insCC
ENST00000372228.9:c.1338+347_1338+348insCC	ENSP00000361302.3:n.1338+347_1338+348insCC
ENST00000402686.8:c.1272+347_1272+348insCC MANE Select	ENSP00000385797.4:n.1272+347_1272+348insCC
ENST00000676640.1:c.1272+347_1272+348insCC	ENSP00000503281.1:n.1272+347_1272+348insCC
ENST00000676803.1:c.447+347_447+348insCC	ENSP00000503093.1:n.447+347_447+348insCC
ENST00000676835.1:c.*487+347_*487+348insCC	ENSP00000502911.1:n.*487+347_*487+348insCC
ENST00000677029.1:c.816+347_816+348insCC	ENSP00000502936.1:n.816+347_816+348insCC
ENST00000677099.1:c.*982+347_*982+348insCC	ENSP00000504553.1:n.*982+347_*982+348insCC
ENST00000677216.1:c.921+347_921+348insCC	ENSP00000503772.1:n.921+347_921+348insCC
ENST00000677295.1:c.*649+347_*649+348insCC	ENSP00000504346.1:n.*649+347_*649+348insCC
ENST00000677444.1:c.1078+347_1078+348insCC
ENST00000677586.1:n.753+347_753+348insCC
ENST00000677626.1:c.921+347_921+348insCC	ENSP00000503552.1:n.921+347_921+348insCC
ENST00000677677.1:n.1232+347_1232+348insCC
ENST00000677853.1:c.*280+347_*280+348insCC	ENSP00000503488.1:n.*280+347_*280+348insCC
ENST00000677944.1:c.534+347_534+348insCC
ENST00000678264.1:c.*649+347_*649+348insCC	ENSP00000503157.1:n.*649+347_*649+348insCC
ENST00000678303.1:c.1182+347_1182+348insCC	ENSP00000503696.1:n.1182+347_1182+348insCC
ENST00000678366.1:c.*1521+347_*1521+348insCC	ENSP00000504353.1:n.*1521+347_*1521+348insCC
ENST00000678546.1:c.*1217+347_*1217+348insCC	ENSP00000503062.1:n.*1217+347_*1217+348insCC
ENST00000678548.1:c.*1344+347_*1344+348insCC	ENSP00000503934.1:n.*1344+347_*1344+348insCC
ENST00000678626.1:n.969+347_969+348insCC
ENST00000678733.1:c.353+347_353+348insCC
ENST00000678739.1:c.*1598+347_*1598+348insCC	ENSP00000503806.1:n.*1598+347_*1598+348insCC
ENST00000678795.1:n.359+347_359+348insCC
ENST00000678833.1:c.*719+347_*719+348insCC	ENSP00000503893.1:n.*719+347_*719+348insCC
ENST00000678942.1:c.452+347_452+348insCC	ENSP00000504690.1:n.452+347_452+348insCC
ENST00000679023.1:c.1110+347_1110+348insCC	ENSP00000503718.1:n.1110+347_1110+348insCC
ENST00000679076.1:c.891+347_891+348insCC
ENST00000679111.1:c.1272+347_1272+348insCC	ENSP00000504257.1:n.1272+347_1272+348insCC
ENST00000679189.1:c.921+347_921+348insCC	ENSP00000503356.1:n.921+347_921+348insCC
ENST00000341012.11:c.1110+347_1110+348insCC	ENSP00000343034.7:n.1110+347_1110+348insCC
ENST00000372228.7:c.1338+347_1338+348insCC	ENSP00000361302.3:n.1338+347_1338+348insCC
ENST00000402686.7:c.1272+347_1272+348insCC	ENSP00000385797.3:n.1272+347_1272+348insCC
ENST00000404875.6:c.921+347_921+348insCC	ENSP00000384531.2:n.921+347_921+348insCC
ENST00000423007.5:c.1272+347_1272+348insCC	ENSP00000404119.1:n.1272+347_1272+348insCC
ENST00000485278.5:n.1827+347_1827+348insCC
NM_001077365.1:c.1272+347_1272+348insCC	NP_001070833.1:n.1272+347_1272+348insCC
NM_001077366.1:c.1110+347_1110+348insCC	NP_001070834.1:n.1110+347_1110+348insCC
NM_001136113.1:c.1272+347_1272+348insCC	NP_001129585.1:n.1272+347_1272+348insCC
NM_001136114.1:c.921+347_921+348insCC	NP_001129586.1:n.921+347_921+348insCC
NM_007171.3:c.1338+347_1338+348insCC	NP_009102.3:n.1338+347_1338+348insCC
XM_005272156.1:c.1338+347_1338+348insCC	XP_005272213.1:n.1338+347_1338+348insCC
XM_005272158.1:c.1176+347_1176+348insCC	XP_005272215.1:n.1176+347_1176+348insCC
XM_005272159.1:c.987+347_987+348insCC	XP_005272216.1:n.987+347_987+348insCC
XM_005272162.1:c.141+347_141+348insCC	XP_005272219.1:n.141+347_141+348insCC
XM_006716932.1:c.987+347_987+348insCC	XP_006716995.1:n.987+347_987+348insCC
XM_011518140.1:c.1191+347_1191+348insCC	XP_011516442.1:n.1191+347_1191+348insCC
XM_011518141.1:c.1125+347_1125+348insCC	XP_011516443.1:n.1125+347_1125+348insCC
XM_011518142.1:c.1029+347_1029+348insCC	XP_011516444.1:n.1029+347_1029+348insCC
XM_011518143.1:c.1023+347_1023+348insCC	XP_011516445.1:n.1023+347_1023+348insCC
XM_011518144.1:c.1338+347_1338+348insCC	XP_011516446.1:n.1338+347_1338+348insCC
XM_011518145.1:c.882+347_882+348insCC	XP_011516447.1:n.882+347_882+348insCC
XM_011518146.1:c.1023+347_1023+348insCC	XP_011516448.1:n.1023+347_1023+348insCC
XR_929703.1:n.1514+347_1514+348insCC
NM_001353193.1:c.1338+347_1338+348insCC	NP_001340122.1:n.1338+347_1338+348insCC
NM_001353194.1:c.1110+347_1110+348insCC	NP_001340123.1:n.1110+347_1110+348insCC
NM_001353195.1:c.921+347_921+348insCC	NP_001340124.1:n.921+347_921+348insCC
NM_001353196.1:c.1182+347_1182+348insCC	NP_001340125.1:n.1182+347_1182+348insCC
NM_001353197.1:c.1176+347_1176+348insCC	NP_001340126.1:n.1176+347_1176+348insCC
NM_001353198.1:c.1176+347_1176+348insCC	NP_001340127.1:n.1176+347_1176+348insCC
NM_001353199.1:c.987+347_987+348insCC	NP_001340128.1:n.987+347_987+348insCC
NM_001353200.1:c.816+347_816+348insCC	NP_001340129.1:n.816+347_816+348insCC
NR_148391.1:n.1322+347_1322+348insCC
NR_148392.1:n.1540+347_1540+348insCC
NR_148393.1:n.1322+347_1322+348insCC
NR_148394.1:n.1215+347_1215+348insCC
NR_148395.1:n.1474+347_1474+348insCC
NR_148396.1:n.1108+347_1108+348insCC
NR_148397.1:n.1372+347_1372+348insCC
NR_148398.1:n.1327+347_1327+348insCC
NR_148399.1:n.1714+347_1714+348insCC
NR_148400.1:n.1313+347_1313+348insCC
XM_005272162.3:c.141+347_141+348insCC	XP_005272219.1:n.141+347_141+348insCC
XM_006716932.2:c.987+347_987+348insCC	XP_006716995.1:n.987+347_987+348insCC
XM_011518140.2:c.1191+347_1191+348insCC	XP_011516442.1:n.1191+347_1191+348insCC
XM_011518141.2:c.1125+347_1125+348insCC	XP_011516443.1:n.1125+347_1125+348insCC
XM_011518142.2:c.1029+347_1029+348insCC	XP_011516444.1:n.1029+347_1029+348insCC
XM_011518143.2:c.1023+347_1023+348insCC	XP_011516445.1:n.1023+347_1023+348insCC
XM_011518145.2:c.882+347_882+348insCC	XP_011516447.1:n.882+347_882+348insCC
XM_017014205.2:c.141+347_141+348insCC	XP_016869694.1:n.141+347_141+348insCC
XM_024447380.1:c.141+347_141+348insCC	XP_024303148.1:n.141+347_141+348insCC
XM_024447381.1:c.447+347_447+348insCC	XP_024303149.1:n.447+347_447+348insCC
XM_024447382.1:c.141+347_141+348insCC	XP_024303150.1:n.141+347_141+348insCC
XR_001746160.2:n.1442+347_1442+348insCC
XR_001746162.2:n.1508+347_1508+348insCC
XR_001746164.1:n.1225+347_1225+348insCC
XR_001746166.2:n.1659+347_1659+348insCC
NM_001077365.2:c.1272+347_1272+348insCC MANE Select	NP_001070833.1:n.1272+347_1272+348insCC
NM_001077366.2:c.1110+347_1110+348insCC	NP_001070834.1:n.1110+347_1110+348insCC
NM_001136113.2:c.1272+347_1272+348insCC	NP_001129585.1:n.1272+347_1272+348insCC
NM_001136114.2:c.921+347_921+348insCC	NP_001129586.1:n.921+347_921+348insCC
NM_001353193.2:c.1338+347_1338+348insCC	NP_001340122.2:n.1338+347_1338+348insCC
NM_001353194.2:c.1110+347_1110+348insCC	NP_001340123.1:n.1110+347_1110+348insCC
NM_001353195.2:c.921+347_921+348insCC	NP_001340124.1:n.921+347_921+348insCC
NM_001353196.2:c.1182+347_1182+348insCC	NP_001340125.1:n.1182+347_1182+348insCC
NM_001353197.2:c.1176+347_1176+348insCC	NP_001340126.2:n.1176+347_1176+348insCC
NM_001353198.2:c.1176+347_1176+348insCC	NP_001340127.2:n.1176+347_1176+348insCC
NM_001353199.2:c.987+347_987+348insCC	NP_001340128.2:n.987+347_987+348insCC
NM_001353200.2:c.816+347_816+348insCC	NP_001340129.1:n.816+347_816+348insCC
NM_001374689.1:c.1260+347_1260+348insCC	NP_001361618.1:n.1260+347_1260+348insCC
NM_001374690.1:c.1272+347_1272+348insCC	NP_001361619.1:n.1272+347_1272+348insCC
NM_001374691.1:c.921+347_921+348insCC	NP_001361620.1:n.921+347_921+348insCC
NM_001374692.1:c.921+347_921+348insCC	NP_001361621.1:n.921+347_921+348insCC
NM_001374693.1:c.921+347_921+348insCC	NP_001361622.1:n.921+347_921+348insCC
NM_001374695.1:c.882+347_882+348insCC	NP_001361624.1:n.882+347_882+348insCC
NM_007171.4:c.1338+347_1338+348insCC	NP_009102.4:n.1338+347_1338+348insCC
NR_148391.2:n.1306+347_1306+348insCC
NR_148392.2:n.1524+347_1524+348insCC
NR_148393.2:n.1306+347_1306+348insCC
NR_148394.2:n.1199+347_1199+348insCC
NR_148395.2:n.1458+347_1458+348insCC
NR_148396.2:n.1092+347_1092+348insCC
NR_148397.2:n.1356+347_1356+348insCC
NR_148398.2:n.1311+347_1311+348insCC
NR_148399.2:n.1698+347_1698+348insCC
NR_148400.2:n.1297+347_1297+348insCC