Canonical Allele Identifier: CA375311181

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393853G>A (hg19) ; chr9:g.131518466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518466G>A , CM000671.2:g.131518466G>A	GRCh38
NC_000009.11:g.134393853G>A , CM000671.1:g.134393853G>A	GRCh37
NC_000009.10:g.133383674G>A	NCBI36
NG_008896.1:g.20565G>A
NG_008896.2:g.20565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1132G>A	ENSP00000343034.7:p.Asp378Asn
ENST00000404875.7:n.1834G>A
ENST00000423007.6:c.1351G>A	ENSP00000404119.2:p.Asp451Asn
ENST00000677295.2:c.*1638G>A	ENSP00000504346.2:n.*1638G>A
ENST00000678264.2:c.*1477G>A	ENSP00000503157.2:n.*1477G>A
ENST00000682070.1:n.1759G>A
ENST00000682535.1:n.66G>A
ENST00000682539.1:c.232G>A
ENST00000682813.1:n.1559G>A
ENST00000683110.1:n.22G>A
ENST00000683392.1:n.4041G>A
ENST00000683712.1:n.1699G>A
ENST00000683900.1:n.3194G>A
ENST00000684062.1:n.1960G>A
ENST00000684579.1:n.3140G>A
ENST00000684679.1:n.521G>A
ENST00000341012.12:c.1132G>A	ENSP00000343034.7:p.Asp378Asn
ENST00000372220.5:c.163G>A	ENSP00000361294.5:p.Asp55Asn
ENST00000372228.9:c.1360G>A	ENSP00000361302.3:p.Asp454Asn
ENST00000402686.8:c.1294G>A MANE Select	ENSP00000385797.4:p.Asp432Asn
ENST00000676640.1:c.1294G>A	ENSP00000503281.1:p.Asp432Asn
ENST00000676803.1:c.469G>A	ENSP00000503093.1:p.Asp157Asn
ENST00000676835.1:c.*509G>A	ENSP00000502911.1:n.*509G>A
ENST00000677029.1:c.838G>A	ENSP00000502936.1:p.Asp280Asn
ENST00000677099.1:c.*1004G>A	ENSP00000504553.1:n.*1004G>A
ENST00000677216.1:c.943G>A	ENSP00000503772.1:p.Asp315Asn
ENST00000677221.1:n.319G>A
ENST00000677295.1:c.*671G>A	ENSP00000504346.1:n.*671G>A
ENST00000677444.1:c.1100G>A
ENST00000677586.1:n.775G>A
ENST00000677626.1:c.943G>A	ENSP00000503552.1:p.Asp315Asn
ENST00000677677.1:n.1254G>A
ENST00000677853.1:c.*302G>A	ENSP00000503488.1:n.*302G>A
ENST00000677983.1:n.383G>A
ENST00000678202.1:n.314G>A
ENST00000678264.1:c.*671G>A	ENSP00000503157.1:n.*671G>A
ENST00000678303.1:c.1204G>A	ENSP00000503696.1:p.Asp402Asn
ENST00000678366.1:c.*1543G>A	ENSP00000504353.1:n.*1543G>A
ENST00000678546.1:c.*1239G>A	ENSP00000503062.1:n.*1239G>A
ENST00000678548.1:c.*1366G>A	ENSP00000503934.1:n.*1366G>A
ENST00000678626.1:n.991G>A
ENST00000678733.1:c.375G>A
ENST00000678739.1:c.*1620G>A	ENSP00000503806.1:n.*1620G>A
ENST00000678795.1:n.381G>A
ENST00000678833.1:c.*741G>A	ENSP00000503893.1:n.*741G>A
ENST00000678942.1:c.474G>A	ENSP00000504690.1:n.474G>A
ENST00000679023.1:c.1132G>A	ENSP00000503718.1:p.Asp378Asn
ENST00000679076.1:c.913G>A
ENST00000679111.1:c.1294G>A	ENSP00000504257.1:p.Asp432Asn
ENST00000679189.1:c.943G>A	ENSP00000503356.1:p.Asp315Asn
ENST00000341012.11:c.1132G>A	ENSP00000343034.7:p.Asp378Asn
ENST00000372220.4:c.157G>A	ENSP00000361294.4:p.Asp53Asn
ENST00000372228.7:c.1360G>A	ENSP00000361302.3:p.Asp454Asn
ENST00000402686.7:c.1294G>A	ENSP00000385797.3:p.Asp432Asn
ENST00000404875.6:c.943G>A	ENSP00000384531.2:p.Asp315Asn
ENST00000423007.5:c.1294G>A	ENSP00000404119.1:p.Asp432Asn
ENST00000485278.5:n.1849G>A
NM_001077365.1:c.1294G>A	NP_001070833.1:p.Asp432Asn
NM_001077366.1:c.1132G>A	NP_001070834.1:p.Asp378Asn
NM_001136113.1:c.1294G>A	NP_001129585.1:p.Asp432Asn
NM_001136114.1:c.943G>A	NP_001129586.1:p.Asp315Asn
NM_007171.3:c.1360G>A	NP_009102.3:p.Asp454Asn
XM_005272156.1:c.1360G>A	XP_005272213.1:p.Asp454Asn
XM_005272158.1:c.1198G>A	XP_005272215.1:p.Asp400Asn
XM_005272159.1:c.1009G>A	XP_005272216.1:p.Asp337Asn
XM_005272162.1:c.163G>A	XP_005272219.1:p.Asp55Asn
XM_006716932.1:c.1009G>A	XP_006716995.1:p.Asp337Asn
XM_011518140.1:c.1213G>A	XP_011516442.1:p.Asp405Asn
XM_011518141.1:c.1147G>A	XP_011516443.1:p.Asp383Asn
XM_011518142.1:c.1051G>A	XP_011516444.1:p.Asp351Asn
XM_011518143.1:c.1045G>A	XP_011516445.1:p.Asp349Asn
XM_011518144.1:c.1360G>A	XP_011516446.1:p.Asp454Asn
XM_011518145.1:c.904G>A	XP_011516447.1:p.Asp302Asn
XM_011518146.1:c.1045G>A	XP_011516448.1:p.Asp349Asn
XM_011518147.1:c.232G>A	XP_011516449.1:p.Asp78Asn
XR_929703.1:n.1536G>A
NM_001353193.1:c.1360G>A	NP_001340122.1:p.Asp454Asn
NM_001353194.1:c.1132G>A	NP_001340123.1:p.Asp378Asn
NM_001353195.1:c.943G>A	NP_001340124.1:p.Asp315Asn
NM_001353196.1:c.1204G>A	NP_001340125.1:p.Asp402Asn
NM_001353197.1:c.1198G>A	NP_001340126.1:p.Asp400Asn
NM_001353198.1:c.1198G>A	NP_001340127.1:p.Asp400Asn
NM_001353199.1:c.1009G>A	NP_001340128.1:p.Asp337Asn
NM_001353200.1:c.838G>A	NP_001340129.1:p.Asp280Asn
NR_148391.1:n.1344G>A
NR_148392.1:n.1562G>A
NR_148393.1:n.1344G>A
NR_148394.1:n.1237G>A
NR_148395.1:n.1496G>A
NR_148396.1:n.1130G>A
NR_148397.1:n.1394G>A
NR_148398.1:n.1349G>A
NR_148399.1:n.1736G>A
NR_148400.1:n.1335G>A
XM_005272162.3:c.163G>A	XP_005272219.1:p.Asp55Asn
XM_006716932.2:c.1009G>A	XP_006716995.1:p.Asp337Asn
XM_011518140.2:c.1213G>A	XP_011516442.1:p.Asp405Asn
XM_011518141.2:c.1147G>A	XP_011516443.1:p.Asp383Asn
XM_011518142.2:c.1051G>A	XP_011516444.1:p.Asp351Asn
XM_011518143.2:c.1045G>A	XP_011516445.1:p.Asp349Asn
XM_011518145.2:c.904G>A	XP_011516447.1:p.Asp302Asn
XM_017014205.2:c.163G>A	XP_016869694.1:p.Asp55Asn
XM_024447380.1:c.163G>A	XP_024303148.1:p.Asp55Asn
XM_024447381.1:c.469G>A	XP_024303149.1:p.Asp157Asn
XM_024447382.1:c.163G>A	XP_024303150.1:p.Asp55Asn
XR_001746160.2:n.1464G>A
XR_001746162.2:n.1530G>A
XR_001746164.1:n.1247G>A
XR_001746166.2:n.1681G>A
NM_001077365.2:c.1294G>A MANE Select	NP_001070833.1:p.Asp432Asn
NM_001077366.2:c.1132G>A	NP_001070834.1:p.Asp378Asn
NM_001136113.2:c.1294G>A	NP_001129585.1:p.Asp432Asn
NM_001136114.2:c.943G>A	NP_001129586.1:p.Asp315Asn
NM_001353193.2:c.1360G>A	NP_001340122.2:p.Asp454Asn
NM_001353194.2:c.1132G>A	NP_001340123.1:p.Asp378Asn
NM_001353195.2:c.943G>A	NP_001340124.1:p.Asp315Asn
NM_001353196.2:c.1204G>A	NP_001340125.1:p.Asp402Asn
NM_001353197.2:c.1198G>A	NP_001340126.2:p.Asp400Asn
NM_001353198.2:c.1198G>A	NP_001340127.2:p.Asp400Asn
NM_001353199.2:c.1009G>A	NP_001340128.2:p.Asp337Asn
NM_001353200.2:c.838G>A	NP_001340129.1:p.Asp280Asn
NM_001374689.1:c.1282G>A	NP_001361618.1:p.Asp428Asn
NM_001374690.1:c.1294G>A	NP_001361619.1:p.Asp432Asn
NM_001374691.1:c.943G>A	NP_001361620.1:p.Asp315Asn
NM_001374692.1:c.943G>A	NP_001361621.1:p.Asp315Asn
NM_001374693.1:c.943G>A	NP_001361622.1:p.Asp315Asn
NM_001374695.1:c.904G>A	NP_001361624.1:p.Asp302Asn
NM_007171.4:c.1360G>A	NP_009102.4:p.Asp454Asn
NR_148391.2:n.1328G>A
NR_148392.2:n.1546G>A
NR_148393.2:n.1328G>A
NR_148394.2:n.1221G>A
NR_148395.2:n.1480G>A
NR_148396.2:n.1114G>A
NR_148397.2:n.1378G>A
NR_148398.2:n.1333G>A
NR_148399.2:n.1720G>A
NR_148400.2:n.1319G>A