Canonical Allele Identifier: CA375311999

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2435181
• ClinVar RCV Id: RCV003135108
• dbSNP Id: rs1334646753
• gnomAD v3: 9-131518912-C-T
• gnomAD v4: 9-131518912-C-T
• MyVariant Identifiers: chr9:g.134394299C>T (hg19) ; chr9:g.131518912C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518912C>T , CM000671.2:g.131518912C>T	GRCh38
NC_000009.11:g.134394299C>T , CM000671.1:g.134394299C>T	GRCh37
NC_000009.10:g.133384120C>T	NCBI36
NG_008896.1:g.21011C>T
NG_008896.2:g.21011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1279C>T	ENSP00000343034.7:p.His427Tyr
ENST00000404875.7:n.1981C>T
ENST00000423007.6:c.1498C>T	ENSP00000404119.2:p.His500Tyr
ENST00000677295.2:c.*1785C>T	ENSP00000504346.2:n.*1785C>T
ENST00000678264.2:c.*1624C>T	ENSP00000503157.2:n.*1624C>T
ENST00000682070.1:n.1906C>T
ENST00000682539.1:c.379C>T
ENST00000682813.1:n.1845C>T
ENST00000683392.1:n.4188C>T
ENST00000683712.1:n.1846C>T
ENST00000683900.1:n.3341C>T
ENST00000684062.1:n.2107C>T
ENST00000684579.1:n.3287C>T
ENST00000684679.1:n.668C>T
ENST00000341012.12:c.1279C>T	ENSP00000343034.7:p.His427Tyr
ENST00000372220.5:c.310C>T	ENSP00000361294.5:p.His104Tyr
ENST00000372228.9:c.1507C>T	ENSP00000361302.3:p.His503Tyr
ENST00000402686.8:c.1441C>T MANE Select	ENSP00000385797.4:p.His481Tyr
ENST00000676640.1:c.1441C>T	ENSP00000503281.1:p.His481Tyr
ENST00000676803.1:c.616C>T	ENSP00000503093.1:p.His206Tyr
ENST00000676835.1:c.*656C>T	ENSP00000502911.1:n.*656C>T
ENST00000677029.1:c.985C>T	ENSP00000502936.1:p.His329Tyr
ENST00000677099.1:c.*1151C>T	ENSP00000504553.1:n.*1151C>T
ENST00000677216.1:c.1090C>T	ENSP00000503772.1:p.His364Tyr
ENST00000677221.1:n.466C>T
ENST00000677295.1:c.*818C>T	ENSP00000504346.1:n.*818C>T
ENST00000677444.1:c.1386C>T
ENST00000677586.1:n.922C>T
ENST00000677626.1:c.1090C>T	ENSP00000503552.1:p.His364Tyr
ENST00000677677.1:n.1401C>T
ENST00000677853.1:c.*449C>T	ENSP00000503488.1:n.*449C>T
ENST00000678202.1:n.600C>T
ENST00000678264.1:c.*818C>T	ENSP00000503157.1:n.*818C>T
ENST00000678303.1:c.1351C>T	ENSP00000503696.1:p.His451Tyr
ENST00000678366.1:c.*1690C>T	ENSP00000504353.1:n.*1690C>T
ENST00000678546.1:c.*1386C>T	ENSP00000503062.1:n.*1386C>T
ENST00000678548.1:c.*1513C>T	ENSP00000503934.1:n.*1513C>T
ENST00000678626.1:n.1277C>T
ENST00000678733.1:c.522C>T
ENST00000678739.1:c.*1767C>T	ENSP00000503806.1:n.*1767C>T
ENST00000678833.1:c.*888C>T	ENSP00000503893.1:n.*888C>T
ENST00000679023.1:c.1279C>T	ENSP00000503718.1:p.His427Tyr
ENST00000679076.1:c.1060C>T
ENST00000679111.1:c.*197C>T	ENSP00000504257.1:n.*197C>T
ENST00000679189.1:c.1090C>T	ENSP00000503356.1:p.His364Tyr
ENST00000341012.11:c.1279C>T	ENSP00000343034.7:p.His427Tyr
ENST00000372220.4:c.304C>T	ENSP00000361294.4:p.His102Tyr
ENST00000372228.7:c.1507C>T	ENSP00000361302.3:p.His503Tyr
ENST00000402686.7:c.1441C>T	ENSP00000385797.3:p.His481Tyr
ENST00000404875.6:c.1090C>T	ENSP00000384531.2:p.His364Tyr
ENST00000423007.5:c.1441C>T	ENSP00000404119.1:p.His481Tyr
ENST00000467848.1:n.145C>T
ENST00000485278.5:n.1996C>T
NM_001077365.1:c.1441C>T	NP_001070833.1:p.His481Tyr
NM_001077366.1:c.1279C>T	NP_001070834.1:p.His427Tyr
NM_001136113.1:c.1441C>T	NP_001129585.1:p.His481Tyr
NM_001136114.1:c.1090C>T	NP_001129586.1:p.His364Tyr
NM_007171.3:c.1507C>T	NP_009102.3:p.His503Tyr
XM_005272156.1:c.1507C>T	XP_005272213.1:p.His503Tyr
XM_005272158.1:c.1345C>T	XP_005272215.1:p.His449Tyr
XM_005272159.1:c.1156C>T	XP_005272216.1:p.His386Tyr
XM_005272162.1:c.310C>T	XP_005272219.1:p.His104Tyr
XM_006716932.1:c.1156C>T	XP_006716995.1:p.His386Tyr
XM_011518140.1:c.1360C>T	XP_011516442.1:p.His454Tyr
XM_011518141.1:c.1294C>T	XP_011516443.1:p.His432Tyr
XM_011518142.1:c.1198C>T	XP_011516444.1:p.His400Tyr
XM_011518143.1:c.1192C>T	XP_011516445.1:p.His398Tyr
XM_011518145.1:c.1051C>T	XP_011516447.1:p.His351Tyr
XM_011518147.1:c.379C>T	XP_011516449.1:p.His127Tyr
XR_929703.1:n.1683C>T
NM_001353193.1:c.1507C>T	NP_001340122.1:p.His503Tyr
NM_001353194.1:c.1279C>T	NP_001340123.1:p.His427Tyr
NM_001353195.1:c.1090C>T	NP_001340124.1:p.His364Tyr
NM_001353196.1:c.1351C>T	NP_001340125.1:p.His451Tyr
NM_001353197.1:c.1345C>T	NP_001340126.1:p.His449Tyr
NM_001353198.1:c.1345C>T	NP_001340127.1:p.His449Tyr
NM_001353199.1:c.1156C>T	NP_001340128.1:p.His386Tyr
NM_001353200.1:c.985C>T	NP_001340129.1:p.His329Tyr
NR_148391.1:n.1491C>T
NR_148392.1:n.1709C>T
NR_148393.1:n.1630C>T
NR_148394.1:n.1384C>T
NR_148395.1:n.1782C>T
NR_148396.1:n.1416C>T
NR_148397.1:n.1541C>T
NR_148398.1:n.1496C>T
NR_148399.1:n.2022C>T
NR_148400.1:n.1621C>T
XM_005272162.3:c.310C>T	XP_005272219.1:p.His104Tyr
XM_006716932.2:c.1156C>T	XP_006716995.1:p.His386Tyr
XM_011518140.2:c.1360C>T	XP_011516442.1:p.His454Tyr
XM_011518141.2:c.1294C>T	XP_011516443.1:p.His432Tyr
XM_011518142.2:c.1198C>T	XP_011516444.1:p.His400Tyr
XM_011518143.2:c.1192C>T	XP_011516445.1:p.His398Tyr
XM_011518145.2:c.1051C>T	XP_011516447.1:p.His351Tyr
XM_017014205.2:c.310C>T	XP_016869694.1:p.His104Tyr
XM_024447380.1:c.310C>T	XP_024303148.1:p.His104Tyr
XM_024447381.1:c.616C>T	XP_024303149.1:p.His206Tyr
XM_024447382.1:c.310C>T	XP_024303150.1:p.His104Tyr
XR_001746160.2:n.1611C>T
XR_001746162.2:n.1816C>T
XR_001746164.1:n.1533C>T
XR_001746166.2:n.1828C>T
NM_001077365.2:c.1441C>T MANE Select	NP_001070833.1:p.His481Tyr
NM_001077366.2:c.1279C>T	NP_001070834.1:p.His427Tyr
NM_001136113.2:c.1441C>T	NP_001129585.1:p.His481Tyr
NM_001136114.2:c.1090C>T	NP_001129586.1:p.His364Tyr
NM_001353193.2:c.1507C>T	NP_001340122.2:p.His503Tyr
NM_001353194.2:c.1279C>T	NP_001340123.1:p.His427Tyr
NM_001353195.2:c.1090C>T	NP_001340124.1:p.His364Tyr
NM_001353196.2:c.1351C>T	NP_001340125.1:p.His451Tyr
NM_001353197.2:c.1345C>T	NP_001340126.2:p.His449Tyr
NM_001353198.2:c.1345C>T	NP_001340127.2:p.His449Tyr
NM_001353199.2:c.1156C>T	NP_001340128.2:p.His386Tyr
NM_001353200.2:c.985C>T	NP_001340129.1:p.His329Tyr
NM_001374689.1:c.1429C>T	NP_001361618.1:p.His477Tyr
NM_001374690.1:c.1365+375C>T	NP_001361619.1:n.1365+375C>T
NM_001374691.1:c.1090C>T	NP_001361620.1:p.His364Tyr
NM_001374692.1:c.1090C>T	NP_001361621.1:p.His364Tyr
NM_001374693.1:c.1090C>T	NP_001361622.1:p.His364Tyr
NM_001374695.1:c.1051C>T	NP_001361624.1:p.His351Tyr
NM_007171.4:c.1507C>T	NP_009102.4:p.His503Tyr
NR_148391.2:n.1475C>T
NR_148392.2:n.1693C>T
NR_148393.2:n.1614C>T
NR_148394.2:n.1368C>T
NR_148395.2:n.1766C>T
NR_148396.2:n.1400C>T
NR_148397.2:n.1525C>T
NR_148398.2:n.1480C>T
NR_148399.2:n.2006C>T
NR_148400.2:n.1605C>T