Canonical Allele Identifier: CA375314507

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522153-C-A
• MyVariant Identifiers: chr9:g.134397540C>A (hg19) ; chr9:g.131522153C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522153C>A , CM000671.2:g.131522153C>A	GRCh38
NC_000009.11:g.134397540C>A , CM000671.1:g.134397540C>A	GRCh37
NC_000009.10:g.133387361C>A	NCBI36
NG_008896.1:g.24252C>A
NG_008896.2:g.24252C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1770C>A	ENSP00000343034.7:p.Tyr590Ter
ENST00000404875.7:n.2472C>A
ENST00000423007.6:c.1989C>A	ENSP00000404119.2:p.Tyr663Ter
ENST00000677295.2:c.*2276C>A	ENSP00000504346.2:n.*2276C>A
ENST00000678264.2:c.*2115C>A	ENSP00000503157.2:n.*2115C>A
ENST00000682070.1:n.2291-49C>A
ENST00000682813.1:n.2336C>A
ENST00000683392.1:n.4573-49C>A
ENST00000683712.1:n.2337C>A
ENST00000683900.1:n.3832C>A
ENST00000684062.1:n.2598C>A
ENST00000684579.1:n.3778C>A
ENST00000684679.1:n.1159C>A
ENST00000341012.12:c.1770C>A	ENSP00000343034.7:p.Tyr590Ter
ENST00000372220.5:c.801C>A	ENSP00000361294.5:p.Tyr267Ter
ENST00000372228.9:c.1998C>A	ENSP00000361302.3:p.Tyr666Ter
ENST00000402686.8:c.1932C>A MANE Select	ENSP00000385797.4:p.Tyr644Ter
ENST00000676640.1:c.1932C>A	ENSP00000503281.1:p.Tyr644Ter
ENST00000676803.1:c.993C>A	ENSP00000503093.1:p.Tyr331Ter
ENST00000676835.1:c.*1147C>A	ENSP00000502911.1:n.*1147C>A
ENST00000677029.1:c.1476C>A	ENSP00000502936.1:p.Tyr492Ter
ENST00000677099.1:c.*1642C>A	ENSP00000504553.1:n.*1642C>A
ENST00000677216.1:c.1581C>A	ENSP00000503772.1:p.Tyr527Ter
ENST00000677221.1:n.957C>A
ENST00000677295.1:c.*1203-49C>A	ENSP00000504346.1:n.*1203-49C>A
ENST00000677444.1:c.1877C>A
ENST00000677586.1:n.1299C>A
ENST00000677626.1:c.1581C>A	ENSP00000503552.1:p.Tyr527Ter
ENST00000677853.1:c.*940C>A	ENSP00000503488.1:n.*940C>A
ENST00000678202.1:n.1091C>A
ENST00000678264.1:c.*1309C>A	ENSP00000503157.1:n.*1309C>A
ENST00000678303.1:c.1842C>A	ENSP00000503696.1:p.Tyr614Ter
ENST00000678366.1:c.*2181C>A	ENSP00000504353.1:n.*2181C>A
ENST00000678546.1:c.*1877C>A	ENSP00000503062.1:n.*1877C>A
ENST00000678548.1:c.*2071C>A	ENSP00000503934.1:n.*2071C>A
ENST00000678626.1:n.1768C>A
ENST00000678739.1:c.*2147-49C>A	ENSP00000503806.1:n.*2147-49C>A
ENST00000678833.1:c.*1684C>A	ENSP00000503893.1:n.*1684C>A
ENST00000679023.1:c.1770C>A	ENSP00000503718.1:p.Tyr590Ter
ENST00000679076.1:c.1551C>A
ENST00000679111.1:c.*688C>A	ENSP00000504257.1:n.*688C>A
ENST00000679189.1:c.1581C>A	ENSP00000503356.1:p.Tyr527Ter
ENST00000341012.11:c.1770C>A	ENSP00000343034.7:p.Tyr590Ter
ENST00000372220.4:c.795C>A	ENSP00000361294.4:p.Tyr265Ter
ENST00000372228.7:c.1998C>A	ENSP00000361302.3:p.Tyr666Ter
ENST00000402686.7:c.1932C>A	ENSP00000385797.3:p.Tyr644Ter
ENST00000404875.6:c.1581C>A	ENSP00000384531.2:p.Tyr527Ter
ENST00000423007.5:c.1932C>A	ENSP00000404119.1:p.Tyr644Ter
ENST00000485278.5:n.2482C>A
ENST00000494883.1:n.475C>A
NM_001077365.1:c.1932C>A	NP_001070833.1:p.Tyr644Ter
NM_001077366.1:c.1770C>A	NP_001070834.1:p.Tyr590Ter
NM_001136113.1:c.1932C>A	NP_001129585.1:p.Tyr644Ter
NM_001136114.1:c.1581C>A	NP_001129586.1:p.Tyr527Ter
NM_007171.3:c.1998C>A	NP_009102.3:p.Tyr666Ter
XM_005272156.1:c.1998C>A	XP_005272213.1:p.Tyr666Ter
XM_005272158.1:c.1836C>A	XP_005272215.1:p.Tyr612Ter
XM_005272159.1:c.1647C>A	XP_005272216.1:p.Tyr549Ter
XM_005272162.1:c.801C>A	XP_005272219.1:p.Tyr267Ter
XM_006716932.1:c.1647C>A	XP_006716995.1:p.Tyr549Ter
XM_011518140.1:c.1851C>A	XP_011516442.1:p.Tyr617Ter
XM_011518141.1:c.1785C>A	XP_011516443.1:p.Tyr595Ter
XM_011518142.1:c.1689C>A	XP_011516444.1:p.Tyr563Ter
XM_011518143.1:c.1683C>A	XP_011516445.1:p.Tyr561Ter
XM_011518145.1:c.1542C>A	XP_011516447.1:p.Tyr514Ter
XM_011518147.1:c.870C>A	XP_011516449.1:p.Tyr290Ter
XR_929703.1:n.2174C>A
NM_001353193.1:c.1998C>A	NP_001340122.1:p.Tyr666Ter
NM_001353194.1:c.1770C>A	NP_001340123.1:p.Tyr590Ter
NM_001353195.1:c.1581C>A	NP_001340124.1:p.Tyr527Ter
NM_001353196.1:c.1842C>A	NP_001340125.1:p.Tyr614Ter
NM_001353197.1:c.1836C>A	NP_001340126.1:p.Tyr612Ter
NM_001353198.1:c.1836C>A	NP_001340127.1:p.Tyr612Ter
NM_001353199.1:c.1647C>A	NP_001340128.1:p.Tyr549Ter
NM_001353200.1:c.1476C>A	NP_001340129.1:p.Tyr492Ter
NR_148391.1:n.1982C>A
NR_148392.1:n.2200C>A
NR_148393.1:n.2121C>A
NR_148394.1:n.1875C>A
NR_148395.1:n.2273C>A
NR_148396.1:n.1907C>A
NR_148397.1:n.2032C>A
NR_148398.1:n.1987C>A
NR_148399.1:n.2513C>A
NR_148400.1:n.2112C>A
XM_005272162.3:c.801C>A	XP_005272219.1:p.Tyr267Ter
XM_006716932.2:c.1647C>A	XP_006716995.1:p.Tyr549Ter
XM_011518140.2:c.1851C>A	XP_011516442.1:p.Tyr617Ter
XM_011518141.2:c.1785C>A	XP_011516443.1:p.Tyr595Ter
XM_011518142.2:c.1689C>A	XP_011516444.1:p.Tyr563Ter
XM_011518143.2:c.1683C>A	XP_011516445.1:p.Tyr561Ter
XM_011518145.2:c.1542C>A	XP_011516447.1:p.Tyr514Ter
XM_017014205.2:c.801C>A	XP_016869694.1:p.Tyr267Ter
XM_024447380.1:c.801C>A	XP_024303148.1:p.Tyr267Ter
XM_024447381.1:c.1107C>A	XP_024303149.1:p.Tyr369Ter
XM_024447382.1:c.801C>A	XP_024303150.1:p.Tyr267Ter
XR_001746160.2:n.2102C>A
XR_001746162.2:n.2307C>A
XR_001746164.1:n.2024C>A
XR_001746166.2:n.2319C>A
NM_001077365.2:c.1932C>A MANE Select	NP_001070833.1:p.Tyr644Ter
NM_001077366.2:c.1770C>A	NP_001070834.1:p.Tyr590Ter
NM_001136113.2:c.1932C>A	NP_001129585.1:p.Tyr644Ter
NM_001136114.2:c.1581C>A	NP_001129586.1:p.Tyr527Ter
NM_001353193.2:c.1998C>A	NP_001340122.2:p.Tyr666Ter
NM_001353194.2:c.1770C>A	NP_001340123.1:p.Tyr590Ter
NM_001353195.2:c.1581C>A	NP_001340124.1:p.Tyr527Ter
NM_001353196.2:c.1842C>A	NP_001340125.1:p.Tyr614Ter
NM_001353197.2:c.1836C>A	NP_001340126.2:p.Tyr612Ter
NM_001353198.2:c.1836C>A	NP_001340127.2:p.Tyr612Ter
NM_001353199.2:c.1647C>A	NP_001340128.2:p.Tyr549Ter
NM_001353200.2:c.1476C>A	NP_001340129.1:p.Tyr492Ter
NM_001374689.1:c.1920C>A	NP_001361618.1:p.Tyr640Ter
NM_001374690.1:c.1713C>A	NP_001361619.1:p.Tyr571Ter
NM_001374691.1:c.1581C>A	NP_001361620.1:p.Tyr527Ter
NM_001374692.1:c.1581C>A	NP_001361621.1:p.Tyr527Ter
NM_001374693.1:c.1581C>A	NP_001361622.1:p.Tyr527Ter
NM_001374695.1:c.1542C>A	NP_001361624.1:p.Tyr514Ter
NM_007171.4:c.1998C>A	NP_009102.4:p.Tyr666Ter
NR_148391.2:n.1966C>A
NR_148392.2:n.2184C>A
NR_148393.2:n.2105C>A
NR_148394.2:n.1859C>A
NR_148395.2:n.2257C>A
NR_148396.2:n.1891C>A
NR_148397.2:n.2016C>A
NR_148398.2:n.1971C>A
NR_148399.2:n.2497C>A
NR_148400.2:n.2096C>A