Canonical Allele Identifier: CA375311481

Gene: POMT1

Linked Data

• ClinVar Variation Id: 1499583
• ClinVar RCV Id: RCV002012875
• dbSNP Id: rs2131848872
• MyVariant Identifiers: chr9:g.134393907A>T (hg19) ; chr9:g.131518520A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518520A>T , CM000671.2:g.131518520A>T	GRCh38
NC_000009.11:g.134393907A>T , CM000671.1:g.134393907A>T	GRCh37
NC_000009.10:g.133383728A>T	NCBI36
NG_008896.1:g.20619A>T
NG_008896.2:g.20619A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1186A>T	ENSP00000343034.7:p.Thr396Ser
ENST00000404875.7:n.1888A>T
ENST00000423007.6:c.1405A>T	ENSP00000404119.2:p.Thr469Ser
ENST00000677295.2:c.*1692A>T	ENSP00000504346.2:n.*1692A>T
ENST00000678264.2:c.*1531A>T	ENSP00000503157.2:n.*1531A>T
ENST00000682070.1:n.1813A>T
ENST00000682535.1:n.120A>T
ENST00000682539.1:c.286A>T
ENST00000682813.1:n.1613A>T
ENST00000683110.1:n.76A>T
ENST00000683392.1:n.4095A>T
ENST00000683712.1:n.1753A>T
ENST00000683900.1:n.3248A>T
ENST00000684062.1:n.2014A>T
ENST00000684579.1:n.3194A>T
ENST00000684679.1:n.575A>T
ENST00000341012.12:c.1186A>T	ENSP00000343034.7:p.Thr396Ser
ENST00000372220.5:c.217A>T	ENSP00000361294.5:p.Thr73Ser
ENST00000372228.9:c.1414A>T	ENSP00000361302.3:p.Thr472Ser
ENST00000402686.8:c.1348A>T MANE Select	ENSP00000385797.4:p.Thr450Ser
ENST00000676640.1:c.1348A>T	ENSP00000503281.1:p.Thr450Ser
ENST00000676803.1:c.523A>T	ENSP00000503093.1:p.Thr175Ser
ENST00000676835.1:c.*563A>T	ENSP00000502911.1:n.*563A>T
ENST00000677029.1:c.892A>T	ENSP00000502936.1:p.Thr298Ser
ENST00000677099.1:c.*1058A>T	ENSP00000504553.1:n.*1058A>T
ENST00000677216.1:c.997A>T	ENSP00000503772.1:p.Thr333Ser
ENST00000677221.1:n.373A>T
ENST00000677295.1:c.*725A>T	ENSP00000504346.1:n.*725A>T
ENST00000677444.1:c.1154A>T
ENST00000677586.1:n.829A>T
ENST00000677626.1:c.997A>T	ENSP00000503552.1:p.Thr333Ser
ENST00000677677.1:n.1308A>T
ENST00000677853.1:c.*356A>T	ENSP00000503488.1:n.*356A>T
ENST00000677983.1:n.437A>T
ENST00000678202.1:n.368A>T
ENST00000678264.1:c.*725A>T	ENSP00000503157.1:n.*725A>T
ENST00000678303.1:c.1258A>T	ENSP00000503696.1:p.Thr420Ser
ENST00000678366.1:c.*1597A>T	ENSP00000504353.1:n.*1597A>T
ENST00000678546.1:c.*1293A>T	ENSP00000503062.1:n.*1293A>T
ENST00000678548.1:c.*1420A>T	ENSP00000503934.1:n.*1420A>T
ENST00000678626.1:n.1045A>T
ENST00000678733.1:c.429A>T
ENST00000678739.1:c.*1674A>T	ENSP00000503806.1:n.*1674A>T
ENST00000678795.1:n.435A>T
ENST00000678833.1:c.*795A>T	ENSP00000503893.1:n.*795A>T
ENST00000678942.1:c.528A>T	ENSP00000504690.1:n.528A>T
ENST00000679023.1:c.1186A>T	ENSP00000503718.1:p.Thr396Ser
ENST00000679076.1:c.967A>T
ENST00000679111.1:c.1348A>T	ENSP00000504257.1:p.Thr450Ser
ENST00000679189.1:c.997A>T	ENSP00000503356.1:p.Thr333Ser
ENST00000341012.11:c.1186A>T	ENSP00000343034.7:p.Thr396Ser
ENST00000372220.4:c.211A>T	ENSP00000361294.4:p.Thr71Ser
ENST00000372228.7:c.1414A>T	ENSP00000361302.3:p.Thr472Ser
ENST00000402686.7:c.1348A>T	ENSP00000385797.3:p.Thr450Ser
ENST00000404875.6:c.997A>T	ENSP00000384531.2:p.Thr333Ser
ENST00000423007.5:c.1348A>T	ENSP00000404119.1:p.Thr450Ser
ENST00000485278.5:n.1903A>T
NM_001077365.1:c.1348A>T	NP_001070833.1:p.Thr450Ser
NM_001077366.1:c.1186A>T	NP_001070834.1:p.Thr396Ser
NM_001136113.1:c.1348A>T	NP_001129585.1:p.Thr450Ser
NM_001136114.1:c.997A>T	NP_001129586.1:p.Thr333Ser
NM_007171.3:c.1414A>T	NP_009102.3:p.Thr472Ser
XM_005272156.1:c.1414A>T	XP_005272213.1:p.Thr472Ser
XM_005272158.1:c.1252A>T	XP_005272215.1:p.Thr418Ser
XM_005272159.1:c.1063A>T	XP_005272216.1:p.Thr355Ser
XM_005272162.1:c.217A>T	XP_005272219.1:p.Thr73Ser
XM_006716932.1:c.1063A>T	XP_006716995.1:p.Thr355Ser
XM_011518140.1:c.1267A>T	XP_011516442.1:p.Thr423Ser
XM_011518141.1:c.1201A>T	XP_011516443.1:p.Thr401Ser
XM_011518142.1:c.1105A>T	XP_011516444.1:p.Thr369Ser
XM_011518143.1:c.1099A>T	XP_011516445.1:p.Thr367Ser
XM_011518144.1:c.1414A>T	XP_011516446.1:p.Thr472Ser
XM_011518145.1:c.958A>T	XP_011516447.1:p.Thr320Ser
XM_011518146.1:c.1099A>T	XP_011516448.1:p.Thr367Ser
XM_011518147.1:c.286A>T	XP_011516449.1:p.Thr96Ser
XR_929703.1:n.1590A>T
NM_001353193.1:c.1414A>T	NP_001340122.1:p.Thr472Ser
NM_001353194.1:c.1186A>T	NP_001340123.1:p.Thr396Ser
NM_001353195.1:c.997A>T	NP_001340124.1:p.Thr333Ser
NM_001353196.1:c.1258A>T	NP_001340125.1:p.Thr420Ser
NM_001353197.1:c.1252A>T	NP_001340126.1:p.Thr418Ser
NM_001353198.1:c.1252A>T	NP_001340127.1:p.Thr418Ser
NM_001353199.1:c.1063A>T	NP_001340128.1:p.Thr355Ser
NM_001353200.1:c.892A>T	NP_001340129.1:p.Thr298Ser
NR_148391.1:n.1398A>T
NR_148392.1:n.1616A>T
NR_148393.1:n.1398A>T
NR_148394.1:n.1291A>T
NR_148395.1:n.1550A>T
NR_148396.1:n.1184A>T
NR_148397.1:n.1448A>T
NR_148398.1:n.1403A>T
NR_148399.1:n.1790A>T
NR_148400.1:n.1389A>T
XM_005272162.3:c.217A>T	XP_005272219.1:p.Thr73Ser
XM_006716932.2:c.1063A>T	XP_006716995.1:p.Thr355Ser
XM_011518140.2:c.1267A>T	XP_011516442.1:p.Thr423Ser
XM_011518141.2:c.1201A>T	XP_011516443.1:p.Thr401Ser
XM_011518142.2:c.1105A>T	XP_011516444.1:p.Thr369Ser
XM_011518143.2:c.1099A>T	XP_011516445.1:p.Thr367Ser
XM_011518145.2:c.958A>T	XP_011516447.1:p.Thr320Ser
XM_017014205.2:c.217A>T	XP_016869694.1:p.Thr73Ser
XM_024447380.1:c.217A>T	XP_024303148.1:p.Thr73Ser
XM_024447381.1:c.523A>T	XP_024303149.1:p.Thr175Ser
XM_024447382.1:c.217A>T	XP_024303150.1:p.Thr73Ser
XR_001746160.2:n.1518A>T
XR_001746162.2:n.1584A>T
XR_001746164.1:n.1301A>T
XR_001746166.2:n.1735A>T
NM_001077365.2:c.1348A>T MANE Select	NP_001070833.1:p.Thr450Ser
NM_001077366.2:c.1186A>T	NP_001070834.1:p.Thr396Ser
NM_001136113.2:c.1348A>T	NP_001129585.1:p.Thr450Ser
NM_001136114.2:c.997A>T	NP_001129586.1:p.Thr333Ser
NM_001353193.2:c.1414A>T	NP_001340122.2:p.Thr472Ser
NM_001353194.2:c.1186A>T	NP_001340123.1:p.Thr396Ser
NM_001353195.2:c.997A>T	NP_001340124.1:p.Thr333Ser
NM_001353196.2:c.1258A>T	NP_001340125.1:p.Thr420Ser
NM_001353197.2:c.1252A>T	NP_001340126.2:p.Thr418Ser
NM_001353198.2:c.1252A>T	NP_001340127.2:p.Thr418Ser
NM_001353199.2:c.1063A>T	NP_001340128.2:p.Thr355Ser
NM_001353200.2:c.892A>T	NP_001340129.1:p.Thr298Ser
NM_001374689.1:c.1336A>T	NP_001361618.1:p.Thr446Ser
NM_001374690.1:c.1348A>T	NP_001361619.1:p.Thr450Ser
NM_001374691.1:c.997A>T	NP_001361620.1:p.Thr333Ser
NM_001374692.1:c.997A>T	NP_001361621.1:p.Thr333Ser
NM_001374693.1:c.997A>T	NP_001361622.1:p.Thr333Ser
NM_001374695.1:c.958A>T	NP_001361624.1:p.Thr320Ser
NM_007171.4:c.1414A>T	NP_009102.4:p.Thr472Ser
NR_148391.2:n.1382A>T
NR_148392.2:n.1600A>T
NR_148393.2:n.1382A>T
NR_148394.2:n.1275A>T
NR_148395.2:n.1534A>T
NR_148396.2:n.1168A>T
NR_148397.2:n.1432A>T
NR_148398.2:n.1387A>T
NR_148399.2:n.1774A>T
NR_148400.2:n.1373A>T