Canonical Allele Identifier: CA467423435

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393864C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518477C>A , CM000671.2:g.131518477C>A	GRCh38
NC_000009.11:g.134393864C>A , CM000671.1:g.134393864C>A	GRCh37
NC_000009.10:g.133383685C>A	NCBI36
NG_008896.1:g.20576C>A
NG_008896.2:g.20576C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1143C>A	ENSP00000343034.7:p.Val381=
ENST00000404875.7:n.1845C>A
ENST00000423007.6:c.1362C>A	ENSP00000404119.2:p.Val454=
ENST00000677295.2:c.*1649C>A	ENSP00000504346.2:n.*1649C>A
ENST00000678264.2:c.*1488C>A	ENSP00000503157.2:n.*1488C>A
ENST00000682070.1:n.1770C>A
ENST00000682535.1:n.77C>A
ENST00000682539.1:c.243C>A
ENST00000682813.1:n.1570C>A
ENST00000683110.1:n.33C>A
ENST00000683392.1:n.4052C>A
ENST00000683712.1:n.1710C>A
ENST00000683900.1:n.3205C>A
ENST00000684062.1:n.1971C>A
ENST00000684579.1:n.3151C>A
ENST00000684679.1:n.532C>A
ENST00000341012.12:c.1143C>A	ENSP00000343034.7:p.Val381=
ENST00000372220.5:c.174C>A	ENSP00000361294.5:p.Val58=
ENST00000372228.9:c.1371C>A	ENSP00000361302.3:p.Val457=
ENST00000402686.8:c.1305C>A MANE Select	ENSP00000385797.4:p.Val435=
ENST00000676640.1:c.1305C>A	ENSP00000503281.1:p.Val435=
ENST00000676803.1:c.480C>A	ENSP00000503093.1:p.Val160=
ENST00000676835.1:c.*520C>A	ENSP00000502911.1:n.*520C>A
ENST00000677029.1:c.849C>A	ENSP00000502936.1:p.Val283=
ENST00000677099.1:c.*1015C>A	ENSP00000504553.1:n.*1015C>A
ENST00000677216.1:c.954C>A	ENSP00000503772.1:p.Val318=
ENST00000677221.1:n.330C>A
ENST00000677295.1:c.*682C>A	ENSP00000504346.1:n.*682C>A
ENST00000677444.1:c.1111C>A
ENST00000677586.1:n.786C>A
ENST00000677626.1:c.954C>A	ENSP00000503552.1:p.Val318=
ENST00000677677.1:n.1265C>A
ENST00000677853.1:c.*313C>A	ENSP00000503488.1:n.*313C>A
ENST00000677983.1:n.394C>A
ENST00000678202.1:n.325C>A
ENST00000678264.1:c.*682C>A	ENSP00000503157.1:n.*682C>A
ENST00000678303.1:c.1215C>A	ENSP00000503696.1:p.Val405=
ENST00000678366.1:c.*1554C>A	ENSP00000504353.1:n.*1554C>A
ENST00000678546.1:c.*1250C>A	ENSP00000503062.1:n.*1250C>A
ENST00000678548.1:c.*1377C>A	ENSP00000503934.1:n.*1377C>A
ENST00000678626.1:n.1002C>A
ENST00000678733.1:c.386C>A
ENST00000678739.1:c.*1631C>A	ENSP00000503806.1:n.*1631C>A
ENST00000678795.1:n.392C>A
ENST00000678833.1:c.*752C>A	ENSP00000503893.1:n.*752C>A
ENST00000678942.1:c.485C>A	ENSP00000504690.1:n.485C>A
ENST00000679023.1:c.1143C>A	ENSP00000503718.1:p.Val381=
ENST00000679076.1:c.924C>A
ENST00000679111.1:c.1305C>A	ENSP00000504257.1:p.Val435=
ENST00000679189.1:c.954C>A	ENSP00000503356.1:p.Val318=
ENST00000341012.11:c.1143C>A	ENSP00000343034.7:p.Val381=
ENST00000372220.4:c.168C>A	ENSP00000361294.4:p.Val56=
ENST00000372228.7:c.1371C>A	ENSP00000361302.3:p.Val457=
ENST00000402686.7:c.1305C>A	ENSP00000385797.3:p.Val435=
ENST00000404875.6:c.954C>A	ENSP00000384531.2:p.Val318=
ENST00000423007.5:c.1305C>A	ENSP00000404119.1:p.Val435=
ENST00000485278.5:n.1860C>A
NM_001077365.1:c.1305C>A	NP_001070833.1:p.Val435=
NM_001077366.1:c.1143C>A	NP_001070834.1:p.Val381=
NM_001136113.1:c.1305C>A	NP_001129585.1:p.Val435=
NM_001136114.1:c.954C>A	NP_001129586.1:p.Val318=
NM_007171.3:c.1371C>A	NP_009102.3:p.Val457=
XM_005272156.1:c.1371C>A	XP_005272213.1:p.Val457=
XM_005272158.1:c.1209C>A	XP_005272215.1:p.Val403=
XM_005272159.1:c.1020C>A	XP_005272216.1:p.Val340=
XM_005272162.1:c.174C>A	XP_005272219.1:p.Val58=
XM_006716932.1:c.1020C>A	XP_006716995.1:p.Val340=
XM_011518140.1:c.1224C>A	XP_011516442.1:p.Val408=
XM_011518141.1:c.1158C>A	XP_011516443.1:p.Val386=
XM_011518142.1:c.1062C>A	XP_011516444.1:p.Val354=
XM_011518143.1:c.1056C>A	XP_011516445.1:p.Val352=
XM_011518144.1:c.1371C>A	XP_011516446.1:p.Val457=
XM_011518145.1:c.915C>A	XP_011516447.1:p.Val305=
XM_011518146.1:c.1056C>A	XP_011516448.1:p.Val352=
XM_011518147.1:c.243C>A	XP_011516449.1:p.Val81=
XR_929703.1:n.1547C>A
NM_001353193.1:c.1371C>A	NP_001340122.1:p.Val457=
NM_001353194.1:c.1143C>A	NP_001340123.1:p.Val381=
NM_001353195.1:c.954C>A	NP_001340124.1:p.Val318=
NM_001353196.1:c.1215C>A	NP_001340125.1:p.Val405=
NM_001353197.1:c.1209C>A	NP_001340126.1:p.Val403=
NM_001353198.1:c.1209C>A	NP_001340127.1:p.Val403=
NM_001353199.1:c.1020C>A	NP_001340128.1:p.Val340=
NM_001353200.1:c.849C>A	NP_001340129.1:p.Val283=
NR_148391.1:n.1355C>A
NR_148392.1:n.1573C>A
NR_148393.1:n.1355C>A
NR_148394.1:n.1248C>A
NR_148395.1:n.1507C>A
NR_148396.1:n.1141C>A
NR_148397.1:n.1405C>A
NR_148398.1:n.1360C>A
NR_148399.1:n.1747C>A
NR_148400.1:n.1346C>A
XM_005272162.3:c.174C>A	XP_005272219.1:p.Val58=
XM_006716932.2:c.1020C>A	XP_006716995.1:p.Val340=
XM_011518140.2:c.1224C>A	XP_011516442.1:p.Val408=
XM_011518141.2:c.1158C>A	XP_011516443.1:p.Val386=
XM_011518142.2:c.1062C>A	XP_011516444.1:p.Val354=
XM_011518143.2:c.1056C>A	XP_011516445.1:p.Val352=
XM_011518145.2:c.915C>A	XP_011516447.1:p.Val305=
XM_017014205.2:c.174C>A	XP_016869694.1:p.Val58=
XM_024447380.1:c.174C>A	XP_024303148.1:p.Val58=
XM_024447381.1:c.480C>A	XP_024303149.1:p.Val160=
XM_024447382.1:c.174C>A	XP_024303150.1:p.Val58=
XR_001746160.2:n.1475C>A
XR_001746162.2:n.1541C>A
XR_001746164.1:n.1258C>A
XR_001746166.2:n.1692C>A
NM_001077365.2:c.1305C>A MANE Select	NP_001070833.1:p.Val435=
NM_001077366.2:c.1143C>A	NP_001070834.1:p.Val381=
NM_001136113.2:c.1305C>A	NP_001129585.1:p.Val435=
NM_001136114.2:c.954C>A	NP_001129586.1:p.Val318=
NM_001353193.2:c.1371C>A	NP_001340122.2:p.Val457=
NM_001353194.2:c.1143C>A	NP_001340123.1:p.Val381=
NM_001353195.2:c.954C>A	NP_001340124.1:p.Val318=
NM_001353196.2:c.1215C>A	NP_001340125.1:p.Val405=
NM_001353197.2:c.1209C>A	NP_001340126.2:p.Val403=
NM_001353198.2:c.1209C>A	NP_001340127.2:p.Val403=
NM_001353199.2:c.1020C>A	NP_001340128.2:p.Val340=
NM_001353200.2:c.849C>A	NP_001340129.1:p.Val283=
NM_001374689.1:c.1293C>A	NP_001361618.1:p.Val431=
NM_001374690.1:c.1305C>A	NP_001361619.1:p.Val435=
NM_001374691.1:c.954C>A	NP_001361620.1:p.Val318=
NM_001374692.1:c.954C>A	NP_001361621.1:p.Val318=
NM_001374693.1:c.954C>A	NP_001361622.1:p.Val318=
NM_001374695.1:c.915C>A	NP_001361624.1:p.Val305=
NM_007171.4:c.1371C>A	NP_009102.4:p.Val457=
NR_148391.2:n.1339C>A
NR_148392.2:n.1557C>A
NR_148393.2:n.1339C>A
NR_148394.2:n.1232C>A
NR_148395.2:n.1491C>A
NR_148396.2:n.1125C>A
NR_148397.2:n.1389C>A
NR_148398.2:n.1344C>A
NR_148399.2:n.1731C>A
NR_148400.2:n.1330C>A