Canonical Allele Identifier: CA375311987

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518909-T-A
• MyVariant Identifiers: chr9:g.134394296T>A (hg19) ; chr9:g.131518909T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518909T>A , CM000671.2:g.131518909T>A	GRCh38
NC_000009.11:g.134394296T>A , CM000671.1:g.134394296T>A	GRCh37
NC_000009.10:g.133384117T>A	NCBI36
NG_008896.1:g.21008T>A
NG_008896.2:g.21008T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1276T>A	ENSP00000343034.7:p.Tyr426Asn
ENST00000404875.7:n.1978T>A
ENST00000423007.6:c.1495T>A	ENSP00000404119.2:p.Tyr499Asn
ENST00000677295.2:c.*1782T>A	ENSP00000504346.2:n.*1782T>A
ENST00000678264.2:c.*1621T>A	ENSP00000503157.2:n.*1621T>A
ENST00000682070.1:n.1903T>A
ENST00000682539.1:c.376T>A
ENST00000682813.1:n.1842T>A
ENST00000683392.1:n.4185T>A
ENST00000683712.1:n.1843T>A
ENST00000683900.1:n.3338T>A
ENST00000684062.1:n.2104T>A
ENST00000684579.1:n.3284T>A
ENST00000684679.1:n.665T>A
ENST00000341012.12:c.1276T>A	ENSP00000343034.7:p.Tyr426Asn
ENST00000372220.5:c.307T>A	ENSP00000361294.5:p.Tyr103Asn
ENST00000372228.9:c.1504T>A	ENSP00000361302.3:p.Tyr502Asn
ENST00000402686.8:c.1438T>A MANE Select	ENSP00000385797.4:p.Tyr480Asn
ENST00000676640.1:c.1438T>A	ENSP00000503281.1:p.Tyr480Asn
ENST00000676803.1:c.613T>A	ENSP00000503093.1:p.Tyr205Asn
ENST00000676835.1:c.*653T>A	ENSP00000502911.1:n.*653T>A
ENST00000677029.1:c.982T>A	ENSP00000502936.1:p.Tyr328Asn
ENST00000677099.1:c.*1148T>A	ENSP00000504553.1:n.*1148T>A
ENST00000677216.1:c.1087T>A	ENSP00000503772.1:p.Tyr363Asn
ENST00000677221.1:n.463T>A
ENST00000677295.1:c.*815T>A	ENSP00000504346.1:n.*815T>A
ENST00000677444.1:c.1383T>A
ENST00000677586.1:n.919T>A
ENST00000677626.1:c.1087T>A	ENSP00000503552.1:p.Tyr363Asn
ENST00000677677.1:n.1398T>A
ENST00000677853.1:c.*446T>A	ENSP00000503488.1:n.*446T>A
ENST00000678202.1:n.597T>A
ENST00000678264.1:c.*815T>A	ENSP00000503157.1:n.*815T>A
ENST00000678303.1:c.1348T>A	ENSP00000503696.1:p.Tyr450Asn
ENST00000678366.1:c.*1687T>A	ENSP00000504353.1:n.*1687T>A
ENST00000678546.1:c.*1383T>A	ENSP00000503062.1:n.*1383T>A
ENST00000678548.1:c.*1510T>A	ENSP00000503934.1:n.*1510T>A
ENST00000678626.1:n.1274T>A
ENST00000678733.1:c.519T>A
ENST00000678739.1:c.*1764T>A	ENSP00000503806.1:n.*1764T>A
ENST00000678833.1:c.*885T>A	ENSP00000503893.1:n.*885T>A
ENST00000679023.1:c.1276T>A	ENSP00000503718.1:p.Tyr426Asn
ENST00000679076.1:c.1057T>A
ENST00000679111.1:c.*194T>A	ENSP00000504257.1:n.*194T>A
ENST00000679189.1:c.1087T>A	ENSP00000503356.1:p.Tyr363Asn
ENST00000341012.11:c.1276T>A	ENSP00000343034.7:p.Tyr426Asn
ENST00000372220.4:c.301T>A	ENSP00000361294.4:p.Tyr101Asn
ENST00000372228.7:c.1504T>A	ENSP00000361302.3:p.Tyr502Asn
ENST00000402686.7:c.1438T>A	ENSP00000385797.3:p.Tyr480Asn
ENST00000404875.6:c.1087T>A	ENSP00000384531.2:p.Tyr363Asn
ENST00000423007.5:c.1438T>A	ENSP00000404119.1:p.Tyr480Asn
ENST00000467848.1:n.142T>A
ENST00000485278.5:n.1993T>A
NM_001077365.1:c.1438T>A	NP_001070833.1:p.Tyr480Asn
NM_001077366.1:c.1276T>A	NP_001070834.1:p.Tyr426Asn
NM_001136113.1:c.1438T>A	NP_001129585.1:p.Tyr480Asn
NM_001136114.1:c.1087T>A	NP_001129586.1:p.Tyr363Asn
NM_007171.3:c.1504T>A	NP_009102.3:p.Tyr502Asn
XM_005272156.1:c.1504T>A	XP_005272213.1:p.Tyr502Asn
XM_005272158.1:c.1342T>A	XP_005272215.1:p.Tyr448Asn
XM_005272159.1:c.1153T>A	XP_005272216.1:p.Tyr385Asn
XM_005272162.1:c.307T>A	XP_005272219.1:p.Tyr103Asn
XM_006716932.1:c.1153T>A	XP_006716995.1:p.Tyr385Asn
XM_011518140.1:c.1357T>A	XP_011516442.1:p.Tyr453Asn
XM_011518141.1:c.1291T>A	XP_011516443.1:p.Tyr431Asn
XM_011518142.1:c.1195T>A	XP_011516444.1:p.Tyr399Asn
XM_011518143.1:c.1189T>A	XP_011516445.1:p.Tyr397Asn
XM_011518145.1:c.1048T>A	XP_011516447.1:p.Tyr350Asn
XM_011518147.1:c.376T>A	XP_011516449.1:p.Tyr126Asn
XR_929703.1:n.1680T>A
NM_001353193.1:c.1504T>A	NP_001340122.1:p.Tyr502Asn
NM_001353194.1:c.1276T>A	NP_001340123.1:p.Tyr426Asn
NM_001353195.1:c.1087T>A	NP_001340124.1:p.Tyr363Asn
NM_001353196.1:c.1348T>A	NP_001340125.1:p.Tyr450Asn
NM_001353197.1:c.1342T>A	NP_001340126.1:p.Tyr448Asn
NM_001353198.1:c.1342T>A	NP_001340127.1:p.Tyr448Asn
NM_001353199.1:c.1153T>A	NP_001340128.1:p.Tyr385Asn
NM_001353200.1:c.982T>A	NP_001340129.1:p.Tyr328Asn
NR_148391.1:n.1488T>A
NR_148392.1:n.1706T>A
NR_148393.1:n.1627T>A
NR_148394.1:n.1381T>A
NR_148395.1:n.1779T>A
NR_148396.1:n.1413T>A
NR_148397.1:n.1538T>A
NR_148398.1:n.1493T>A
NR_148399.1:n.2019T>A
NR_148400.1:n.1618T>A
XM_005272162.3:c.307T>A	XP_005272219.1:p.Tyr103Asn
XM_006716932.2:c.1153T>A	XP_006716995.1:p.Tyr385Asn
XM_011518140.2:c.1357T>A	XP_011516442.1:p.Tyr453Asn
XM_011518141.2:c.1291T>A	XP_011516443.1:p.Tyr431Asn
XM_011518142.2:c.1195T>A	XP_011516444.1:p.Tyr399Asn
XM_011518143.2:c.1189T>A	XP_011516445.1:p.Tyr397Asn
XM_011518145.2:c.1048T>A	XP_011516447.1:p.Tyr350Asn
XM_017014205.2:c.307T>A	XP_016869694.1:p.Tyr103Asn
XM_024447380.1:c.307T>A	XP_024303148.1:p.Tyr103Asn
XM_024447381.1:c.613T>A	XP_024303149.1:p.Tyr205Asn
XM_024447382.1:c.307T>A	XP_024303150.1:p.Tyr103Asn
XR_001746160.2:n.1608T>A
XR_001746162.2:n.1813T>A
XR_001746164.1:n.1530T>A
XR_001746166.2:n.1825T>A
NM_001077365.2:c.1438T>A MANE Select	NP_001070833.1:p.Tyr480Asn
NM_001077366.2:c.1276T>A	NP_001070834.1:p.Tyr426Asn
NM_001136113.2:c.1438T>A	NP_001129585.1:p.Tyr480Asn
NM_001136114.2:c.1087T>A	NP_001129586.1:p.Tyr363Asn
NM_001353193.2:c.1504T>A	NP_001340122.2:p.Tyr502Asn
NM_001353194.2:c.1276T>A	NP_001340123.1:p.Tyr426Asn
NM_001353195.2:c.1087T>A	NP_001340124.1:p.Tyr363Asn
NM_001353196.2:c.1348T>A	NP_001340125.1:p.Tyr450Asn
NM_001353197.2:c.1342T>A	NP_001340126.2:p.Tyr448Asn
NM_001353198.2:c.1342T>A	NP_001340127.2:p.Tyr448Asn
NM_001353199.2:c.1153T>A	NP_001340128.2:p.Tyr385Asn
NM_001353200.2:c.982T>A	NP_001340129.1:p.Tyr328Asn
NM_001374689.1:c.1426T>A	NP_001361618.1:p.Tyr476Asn
NM_001374690.1:c.1365+372T>A	NP_001361619.1:n.1365+372T>A
NM_001374691.1:c.1087T>A	NP_001361620.1:p.Tyr363Asn
NM_001374692.1:c.1087T>A	NP_001361621.1:p.Tyr363Asn
NM_001374693.1:c.1087T>A	NP_001361622.1:p.Tyr363Asn
NM_001374695.1:c.1048T>A	NP_001361624.1:p.Tyr350Asn
NM_007171.4:c.1504T>A	NP_009102.4:p.Tyr502Asn
NR_148391.2:n.1472T>A
NR_148392.2:n.1690T>A
NR_148393.2:n.1611T>A
NR_148394.2:n.1365T>A
NR_148395.2:n.1763T>A
NR_148396.2:n.1397T>A
NR_148397.2:n.1522T>A
NR_148398.2:n.1477T>A
NR_148399.2:n.2003T>A
NR_148400.2:n.1602T>A