Canonical Allele Identifier: CA467423469

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393918C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518531C>G , CM000671.2:g.131518531C>G	GRCh38
NC_000009.11:g.134393918C>G , CM000671.1:g.134393918C>G	GRCh37
NC_000009.10:g.133383739C>G	NCBI36
NG_008896.1:g.20630C>G
NG_008896.2:g.20630C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1197C>G	ENSP00000343034.7:p.Val399=
ENST00000404875.7:n.1899C>G
ENST00000423007.6:c.1416C>G	ENSP00000404119.2:p.Val472=
ENST00000677295.2:c.*1703C>G	ENSP00000504346.2:n.*1703C>G
ENST00000678264.2:c.*1542C>G	ENSP00000503157.2:n.*1542C>G
ENST00000682070.1:n.1824C>G
ENST00000682535.1:n.131C>G
ENST00000682539.1:c.297C>G
ENST00000682813.1:n.1624C>G
ENST00000683110.1:n.87C>G
ENST00000683392.1:n.4106C>G
ENST00000683712.1:n.1764C>G
ENST00000683900.1:n.3259C>G
ENST00000684062.1:n.2025C>G
ENST00000684579.1:n.3205C>G
ENST00000684679.1:n.586C>G
ENST00000341012.12:c.1197C>G	ENSP00000343034.7:p.Val399=
ENST00000372220.5:c.228C>G	ENSP00000361294.5:p.Val76=
ENST00000372228.9:c.1425C>G	ENSP00000361302.3:p.Val475=
ENST00000402686.8:c.1359C>G MANE Select	ENSP00000385797.4:p.Val453=
ENST00000676640.1:c.1359C>G	ENSP00000503281.1:p.Val453=
ENST00000676803.1:c.534C>G	ENSP00000503093.1:p.Val178=
ENST00000676835.1:c.*574C>G	ENSP00000502911.1:n.*574C>G
ENST00000677029.1:c.903C>G	ENSP00000502936.1:p.Val301=
ENST00000677099.1:c.*1069C>G	ENSP00000504553.1:n.*1069C>G
ENST00000677216.1:c.1008C>G	ENSP00000503772.1:p.Val336=
ENST00000677221.1:n.384C>G
ENST00000677295.1:c.*736C>G	ENSP00000504346.1:n.*736C>G
ENST00000677444.1:c.1165C>G
ENST00000677586.1:n.840C>G
ENST00000677626.1:c.1008C>G	ENSP00000503552.1:p.Val336=
ENST00000677677.1:n.1319C>G
ENST00000677853.1:c.*367C>G	ENSP00000503488.1:n.*367C>G
ENST00000677983.1:n.448C>G
ENST00000678202.1:n.379C>G
ENST00000678264.1:c.*736C>G	ENSP00000503157.1:n.*736C>G
ENST00000678303.1:c.1269C>G	ENSP00000503696.1:p.Val423=
ENST00000678366.1:c.*1608C>G	ENSP00000504353.1:n.*1608C>G
ENST00000678546.1:c.*1304C>G	ENSP00000503062.1:n.*1304C>G
ENST00000678548.1:c.*1431C>G	ENSP00000503934.1:n.*1431C>G
ENST00000678626.1:n.1056C>G
ENST00000678733.1:c.440C>G
ENST00000678739.1:c.*1685C>G	ENSP00000503806.1:n.*1685C>G
ENST00000678795.1:n.446C>G
ENST00000678833.1:c.*806C>G	ENSP00000503893.1:n.*806C>G
ENST00000678942.1:c.539C>G	ENSP00000504690.1:n.539C>G
ENST00000679023.1:c.1197C>G	ENSP00000503718.1:p.Val399=
ENST00000679076.1:c.978C>G
ENST00000679111.1:c.1359C>G	ENSP00000504257.1:p.Val453=
ENST00000679189.1:c.1008C>G	ENSP00000503356.1:p.Val336=
ENST00000341012.11:c.1197C>G	ENSP00000343034.7:p.Val399=
ENST00000372220.4:c.222C>G	ENSP00000361294.4:p.Val74=
ENST00000372228.7:c.1425C>G	ENSP00000361302.3:p.Val475=
ENST00000402686.7:c.1359C>G	ENSP00000385797.3:p.Val453=
ENST00000404875.6:c.1008C>G	ENSP00000384531.2:p.Val336=
ENST00000423007.5:c.1359C>G	ENSP00000404119.1:p.Val453=
ENST00000485278.5:n.1914C>G
NM_001077365.1:c.1359C>G	NP_001070833.1:p.Val453=
NM_001077366.1:c.1197C>G	NP_001070834.1:p.Val399=
NM_001136113.1:c.1359C>G	NP_001129585.1:p.Val453=
NM_001136114.1:c.1008C>G	NP_001129586.1:p.Val336=
NM_007171.3:c.1425C>G	NP_009102.3:p.Val475=
XM_005272156.1:c.1425C>G	XP_005272213.1:p.Val475=
XM_005272158.1:c.1263C>G	XP_005272215.1:p.Val421=
XM_005272159.1:c.1074C>G	XP_005272216.1:p.Val358=
XM_005272162.1:c.228C>G	XP_005272219.1:p.Val76=
XM_006716932.1:c.1074C>G	XP_006716995.1:p.Val358=
XM_011518140.1:c.1278C>G	XP_011516442.1:p.Val426=
XM_011518141.1:c.1212C>G	XP_011516443.1:p.Val404=
XM_011518142.1:c.1116C>G	XP_011516444.1:p.Val372=
XM_011518143.1:c.1110C>G	XP_011516445.1:p.Val370=
XM_011518144.1:c.1425C>G	XP_011516446.1:p.Val475=
XM_011518145.1:c.969C>G	XP_011516447.1:p.Val323=
XM_011518146.1:c.1110C>G	XP_011516448.1:p.Val370=
XM_011518147.1:c.297C>G	XP_011516449.1:p.Val99=
XR_929703.1:n.1601C>G
NM_001353193.1:c.1425C>G	NP_001340122.1:p.Val475=
NM_001353194.1:c.1197C>G	NP_001340123.1:p.Val399=
NM_001353195.1:c.1008C>G	NP_001340124.1:p.Val336=
NM_001353196.1:c.1269C>G	NP_001340125.1:p.Val423=
NM_001353197.1:c.1263C>G	NP_001340126.1:p.Val421=
NM_001353198.1:c.1263C>G	NP_001340127.1:p.Val421=
NM_001353199.1:c.1074C>G	NP_001340128.1:p.Val358=
NM_001353200.1:c.903C>G	NP_001340129.1:p.Val301=
NR_148391.1:n.1409C>G
NR_148392.1:n.1627C>G
NR_148393.1:n.1409C>G
NR_148394.1:n.1302C>G
NR_148395.1:n.1561C>G
NR_148396.1:n.1195C>G
NR_148397.1:n.1459C>G
NR_148398.1:n.1414C>G
NR_148399.1:n.1801C>G
NR_148400.1:n.1400C>G
XM_005272162.3:c.228C>G	XP_005272219.1:p.Val76=
XM_006716932.2:c.1074C>G	XP_006716995.1:p.Val358=
XM_011518140.2:c.1278C>G	XP_011516442.1:p.Val426=
XM_011518141.2:c.1212C>G	XP_011516443.1:p.Val404=
XM_011518142.2:c.1116C>G	XP_011516444.1:p.Val372=
XM_011518143.2:c.1110C>G	XP_011516445.1:p.Val370=
XM_011518145.2:c.969C>G	XP_011516447.1:p.Val323=
XM_017014205.2:c.228C>G	XP_016869694.1:p.Val76=
XM_024447380.1:c.228C>G	XP_024303148.1:p.Val76=
XM_024447381.1:c.534C>G	XP_024303149.1:p.Val178=
XM_024447382.1:c.228C>G	XP_024303150.1:p.Val76=
XR_001746160.2:n.1529C>G
XR_001746162.2:n.1595C>G
XR_001746164.1:n.1312C>G
XR_001746166.2:n.1746C>G
NM_001077365.2:c.1359C>G MANE Select	NP_001070833.1:p.Val453=
NM_001077366.2:c.1197C>G	NP_001070834.1:p.Val399=
NM_001136113.2:c.1359C>G	NP_001129585.1:p.Val453=
NM_001136114.2:c.1008C>G	NP_001129586.1:p.Val336=
NM_001353193.2:c.1425C>G	NP_001340122.2:p.Val475=
NM_001353194.2:c.1197C>G	NP_001340123.1:p.Val399=
NM_001353195.2:c.1008C>G	NP_001340124.1:p.Val336=
NM_001353196.2:c.1269C>G	NP_001340125.1:p.Val423=
NM_001353197.2:c.1263C>G	NP_001340126.2:p.Val421=
NM_001353198.2:c.1263C>G	NP_001340127.2:p.Val421=
NM_001353199.2:c.1074C>G	NP_001340128.2:p.Val358=
NM_001353200.2:c.903C>G	NP_001340129.1:p.Val301=
NM_001374689.1:c.1347C>G	NP_001361618.1:p.Val449=
NM_001374690.1:c.1359C>G	NP_001361619.1:p.Val453=
NM_001374691.1:c.1008C>G	NP_001361620.1:p.Val336=
NM_001374692.1:c.1008C>G	NP_001361621.1:p.Val336=
NM_001374693.1:c.1008C>G	NP_001361622.1:p.Val336=
NM_001374695.1:c.969C>G	NP_001361624.1:p.Val323=
NM_007171.4:c.1425C>G	NP_009102.4:p.Val475=
NR_148391.2:n.1393C>G
NR_148392.2:n.1611C>G
NR_148393.2:n.1393C>G
NR_148394.2:n.1286C>G
NR_148395.2:n.1545C>G
NR_148396.2:n.1179C>G
NR_148397.2:n.1443C>G
NR_148398.2:n.1398C>G
NR_148399.2:n.1785C>G
NR_148400.2:n.1384C>G