Canonical Allele Identifier: CA375311933

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394280G>C (hg19) ; chr9:g.131518893G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518893G>C , CM000671.2:g.131518893G>C	GRCh38
NC_000009.11:g.134394280G>C , CM000671.1:g.134394280G>C	GRCh37
NC_000009.10:g.133384101G>C	NCBI36
NG_008896.1:g.20992G>C
NG_008896.2:g.20992G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1260G>C	ENSP00000343034.7:p.Glu420Asp
ENST00000404875.7:n.1962G>C
ENST00000423007.6:c.1479G>C	ENSP00000404119.2:p.Glu493Asp
ENST00000677295.2:c.*1766G>C	ENSP00000504346.2:n.*1766G>C
ENST00000678264.2:c.*1605G>C	ENSP00000503157.2:n.*1605G>C
ENST00000682070.1:n.1887G>C
ENST00000682539.1:c.360G>C
ENST00000682813.1:n.1826G>C
ENST00000683392.1:n.4169G>C
ENST00000683712.1:n.1827G>C
ENST00000683900.1:n.3322G>C
ENST00000684062.1:n.2088G>C
ENST00000684579.1:n.3268G>C
ENST00000684679.1:n.649G>C
ENST00000341012.12:c.1260G>C	ENSP00000343034.7:p.Glu420Asp
ENST00000372220.5:c.291G>C	ENSP00000361294.5:p.Glu97Asp
ENST00000372228.9:c.1488G>C	ENSP00000361302.3:p.Glu496Asp
ENST00000402686.8:c.1422G>C MANE Select	ENSP00000385797.4:p.Glu474Asp
ENST00000676640.1:c.1422G>C	ENSP00000503281.1:p.Glu474Asp
ENST00000676803.1:c.597G>C	ENSP00000503093.1:p.Glu199Asp
ENST00000676835.1:c.*637G>C	ENSP00000502911.1:n.*637G>C
ENST00000677029.1:c.966G>C	ENSP00000502936.1:p.Glu322Asp
ENST00000677099.1:c.*1132G>C	ENSP00000504553.1:n.*1132G>C
ENST00000677216.1:c.1071G>C	ENSP00000503772.1:p.Glu357Asp
ENST00000677221.1:n.447G>C
ENST00000677295.1:c.*799G>C	ENSP00000504346.1:n.*799G>C
ENST00000677444.1:c.1367G>C
ENST00000677586.1:n.903G>C
ENST00000677626.1:c.1071G>C	ENSP00000503552.1:p.Glu357Asp
ENST00000677677.1:n.1382G>C
ENST00000677853.1:c.*430G>C	ENSP00000503488.1:n.*430G>C
ENST00000678202.1:n.581G>C
ENST00000678264.1:c.*799G>C	ENSP00000503157.1:n.*799G>C
ENST00000678303.1:c.1332G>C	ENSP00000503696.1:p.Glu444Asp
ENST00000678366.1:c.*1671G>C	ENSP00000504353.1:n.*1671G>C
ENST00000678546.1:c.*1367G>C	ENSP00000503062.1:n.*1367G>C
ENST00000678548.1:c.*1494G>C	ENSP00000503934.1:n.*1494G>C
ENST00000678626.1:n.1258G>C
ENST00000678733.1:c.503G>C
ENST00000678739.1:c.*1748G>C	ENSP00000503806.1:n.*1748G>C
ENST00000678833.1:c.*869G>C	ENSP00000503893.1:n.*869G>C
ENST00000679023.1:c.1260G>C	ENSP00000503718.1:p.Glu420Asp
ENST00000679076.1:c.1041G>C
ENST00000679111.1:c.*178G>C	ENSP00000504257.1:n.*178G>C
ENST00000679189.1:c.1071G>C	ENSP00000503356.1:p.Glu357Asp
ENST00000341012.11:c.1260G>C	ENSP00000343034.7:p.Glu420Asp
ENST00000372220.4:c.285G>C	ENSP00000361294.4:p.Glu95Asp
ENST00000372228.7:c.1488G>C	ENSP00000361302.3:p.Glu496Asp
ENST00000402686.7:c.1422G>C	ENSP00000385797.3:p.Glu474Asp
ENST00000404875.6:c.1071G>C	ENSP00000384531.2:p.Glu357Asp
ENST00000423007.5:c.1422G>C	ENSP00000404119.1:p.Glu474Asp
ENST00000467848.1:n.126G>C
ENST00000485278.5:n.1977G>C
NM_001077365.1:c.1422G>C	NP_001070833.1:p.Glu474Asp
NM_001077366.1:c.1260G>C	NP_001070834.1:p.Glu420Asp
NM_001136113.1:c.1422G>C	NP_001129585.1:p.Glu474Asp
NM_001136114.1:c.1071G>C	NP_001129586.1:p.Glu357Asp
NM_007171.3:c.1488G>C	NP_009102.3:p.Glu496Asp
XM_005272156.1:c.1488G>C	XP_005272213.1:p.Glu496Asp
XM_005272158.1:c.1326G>C	XP_005272215.1:p.Glu442Asp
XM_005272159.1:c.1137G>C	XP_005272216.1:p.Glu379Asp
XM_005272162.1:c.291G>C	XP_005272219.1:p.Glu97Asp
XM_006716932.1:c.1137G>C	XP_006716995.1:p.Glu379Asp
XM_011518140.1:c.1341G>C	XP_011516442.1:p.Glu447Asp
XM_011518141.1:c.1275G>C	XP_011516443.1:p.Glu425Asp
XM_011518142.1:c.1179G>C	XP_011516444.1:p.Glu393Asp
XM_011518143.1:c.1173G>C	XP_011516445.1:p.Glu391Asp
XM_011518145.1:c.1032G>C	XP_011516447.1:p.Glu344Asp
XM_011518147.1:c.360G>C	XP_011516449.1:p.Glu120Asp
XR_929703.1:n.1664G>C
NM_001353193.1:c.1488G>C	NP_001340122.1:p.Glu496Asp
NM_001353194.1:c.1260G>C	NP_001340123.1:p.Glu420Asp
NM_001353195.1:c.1071G>C	NP_001340124.1:p.Glu357Asp
NM_001353196.1:c.1332G>C	NP_001340125.1:p.Glu444Asp
NM_001353197.1:c.1326G>C	NP_001340126.1:p.Glu442Asp
NM_001353198.1:c.1326G>C	NP_001340127.1:p.Glu442Asp
NM_001353199.1:c.1137G>C	NP_001340128.1:p.Glu379Asp
NM_001353200.1:c.966G>C	NP_001340129.1:p.Glu322Asp
NR_148391.1:n.1472G>C
NR_148392.1:n.1690G>C
NR_148393.1:n.1611G>C
NR_148394.1:n.1365G>C
NR_148395.1:n.1763G>C
NR_148396.1:n.1397G>C
NR_148397.1:n.1522G>C
NR_148398.1:n.1477G>C
NR_148399.1:n.2003G>C
NR_148400.1:n.1602G>C
XM_005272162.3:c.291G>C	XP_005272219.1:p.Glu97Asp
XM_006716932.2:c.1137G>C	XP_006716995.1:p.Glu379Asp
XM_011518140.2:c.1341G>C	XP_011516442.1:p.Glu447Asp
XM_011518141.2:c.1275G>C	XP_011516443.1:p.Glu425Asp
XM_011518142.2:c.1179G>C	XP_011516444.1:p.Glu393Asp
XM_011518143.2:c.1173G>C	XP_011516445.1:p.Glu391Asp
XM_011518145.2:c.1032G>C	XP_011516447.1:p.Glu344Asp
XM_017014205.2:c.291G>C	XP_016869694.1:p.Glu97Asp
XM_024447380.1:c.291G>C	XP_024303148.1:p.Glu97Asp
XM_024447381.1:c.597G>C	XP_024303149.1:p.Glu199Asp
XM_024447382.1:c.291G>C	XP_024303150.1:p.Glu97Asp
XR_001746160.2:n.1592G>C
XR_001746162.2:n.1797G>C
XR_001746164.1:n.1514G>C
XR_001746166.2:n.1809G>C
NM_001077365.2:c.1422G>C MANE Select	NP_001070833.1:p.Glu474Asp
NM_001077366.2:c.1260G>C	NP_001070834.1:p.Glu420Asp
NM_001136113.2:c.1422G>C	NP_001129585.1:p.Glu474Asp
NM_001136114.2:c.1071G>C	NP_001129586.1:p.Glu357Asp
NM_001353193.2:c.1488G>C	NP_001340122.2:p.Glu496Asp
NM_001353194.2:c.1260G>C	NP_001340123.1:p.Glu420Asp
NM_001353195.2:c.1071G>C	NP_001340124.1:p.Glu357Asp
NM_001353196.2:c.1332G>C	NP_001340125.1:p.Glu444Asp
NM_001353197.2:c.1326G>C	NP_001340126.2:p.Glu442Asp
NM_001353198.2:c.1326G>C	NP_001340127.2:p.Glu442Asp
NM_001353199.2:c.1137G>C	NP_001340128.2:p.Glu379Asp
NM_001353200.2:c.966G>C	NP_001340129.1:p.Glu322Asp
NM_001374689.1:c.1410G>C	NP_001361618.1:p.Glu470Asp
NM_001374690.1:c.1365+356G>C	NP_001361619.1:n.1365+356G>C
NM_001374691.1:c.1071G>C	NP_001361620.1:p.Glu357Asp
NM_001374692.1:c.1071G>C	NP_001361621.1:p.Glu357Asp
NM_001374693.1:c.1071G>C	NP_001361622.1:p.Glu357Asp
NM_001374695.1:c.1032G>C	NP_001361624.1:p.Glu344Asp
NM_007171.4:c.1488G>C	NP_009102.4:p.Glu496Asp
NR_148391.2:n.1456G>C
NR_148392.2:n.1674G>C
NR_148393.2:n.1595G>C
NR_148394.2:n.1349G>C
NR_148395.2:n.1747G>C
NR_148396.2:n.1381G>C
NR_148397.2:n.1506G>C
NR_148398.2:n.1461G>C
NR_148399.2:n.1987G>C
NR_148400.2:n.1586G>C