Canonical Allele Identifier: CA375311068

Gene: POMT1

Linked Data

• dbSNP Id: rs1949205577
• gnomAD v4: 9-131518448-A-C
• MyVariant Identifiers: chr9:g.134393835A>C (hg19) ; chr9:g.131518448A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518448A>C , CM000671.2:g.131518448A>C	GRCh38
NC_000009.11:g.134393835A>C , CM000671.1:g.134393835A>C	GRCh37
NC_000009.10:g.133383656A>C	NCBI36
NG_008896.1:g.20547A>C
NG_008896.2:g.20547A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1114A>C	ENSP00000343034.7:p.Ile372Leu
ENST00000404875.7:n.1816A>C
ENST00000423007.6:c.1333A>C	ENSP00000404119.2:p.Ile445Leu
ENST00000677295.2:c.*1620A>C	ENSP00000504346.2:n.*1620A>C
ENST00000678264.2:c.*1459A>C	ENSP00000503157.2:n.*1459A>C
ENST00000682070.1:n.1741A>C
ENST00000682535.1:n.48A>C
ENST00000682539.1:c.214A>C
ENST00000682813.1:n.1541A>C
ENST00000683110.1:n.4A>C
ENST00000683392.1:n.4023A>C
ENST00000683712.1:n.1681A>C
ENST00000683900.1:n.3176A>C
ENST00000684062.1:n.1942A>C
ENST00000684579.1:n.3122A>C
ENST00000684679.1:n.503A>C
ENST00000341012.12:c.1114A>C	ENSP00000343034.7:p.Ile372Leu
ENST00000372220.5:c.145A>C	ENSP00000361294.5:p.Ile49Leu
ENST00000372228.9:c.1342A>C	ENSP00000361302.3:p.Ile448Leu
ENST00000402686.8:c.1276A>C MANE Select	ENSP00000385797.4:p.Ile426Leu
ENST00000676640.1:c.1276A>C	ENSP00000503281.1:p.Ile426Leu
ENST00000676803.1:c.451A>C	ENSP00000503093.1:p.Ile151Leu
ENST00000676835.1:c.*491A>C	ENSP00000502911.1:n.*491A>C
ENST00000677029.1:c.820A>C	ENSP00000502936.1:p.Ile274Leu
ENST00000677099.1:c.*986A>C	ENSP00000504553.1:n.*986A>C
ENST00000677216.1:c.925A>C	ENSP00000503772.1:p.Ile309Leu
ENST00000677221.1:n.301A>C
ENST00000677295.1:c.*653A>C	ENSP00000504346.1:n.*653A>C
ENST00000677444.1:c.1082A>C
ENST00000677586.1:n.757A>C
ENST00000677626.1:c.925A>C	ENSP00000503552.1:p.Ile309Leu
ENST00000677677.1:n.1236A>C
ENST00000677853.1:c.*284A>C	ENSP00000503488.1:n.*284A>C
ENST00000677944.1:c.538A>C
ENST00000677983.1:n.365A>C
ENST00000678202.1:n.296A>C
ENST00000678264.1:c.*653A>C	ENSP00000503157.1:n.*653A>C
ENST00000678303.1:c.1186A>C	ENSP00000503696.1:p.Ile396Leu
ENST00000678366.1:c.*1525A>C	ENSP00000504353.1:n.*1525A>C
ENST00000678546.1:c.*1221A>C	ENSP00000503062.1:n.*1221A>C
ENST00000678548.1:c.*1348A>C	ENSP00000503934.1:n.*1348A>C
ENST00000678626.1:n.973A>C
ENST00000678733.1:c.357A>C
ENST00000678739.1:c.*1602A>C	ENSP00000503806.1:n.*1602A>C
ENST00000678795.1:n.363A>C
ENST00000678833.1:c.*723A>C	ENSP00000503893.1:n.*723A>C
ENST00000678942.1:c.456A>C	ENSP00000504690.1:n.456A>C
ENST00000679023.1:c.1114A>C	ENSP00000503718.1:p.Ile372Leu
ENST00000679076.1:c.895A>C
ENST00000679111.1:c.1276A>C	ENSP00000504257.1:p.Ile426Leu
ENST00000679189.1:c.925A>C	ENSP00000503356.1:p.Ile309Leu
ENST00000341012.11:c.1114A>C	ENSP00000343034.7:p.Ile372Leu
ENST00000372220.4:c.139A>C	ENSP00000361294.4:p.Ile47Leu
ENST00000372228.7:c.1342A>C	ENSP00000361302.3:p.Ile448Leu
ENST00000402686.7:c.1276A>C	ENSP00000385797.3:p.Ile426Leu
ENST00000404875.6:c.925A>C	ENSP00000384531.2:p.Ile309Leu
ENST00000423007.5:c.1276A>C	ENSP00000404119.1:p.Ile426Leu
ENST00000485278.5:n.1831A>C
NM_001077365.1:c.1276A>C	NP_001070833.1:p.Ile426Leu
NM_001077366.1:c.1114A>C	NP_001070834.1:p.Ile372Leu
NM_001136113.1:c.1276A>C	NP_001129585.1:p.Ile426Leu
NM_001136114.1:c.925A>C	NP_001129586.1:p.Ile309Leu
NM_007171.3:c.1342A>C	NP_009102.3:p.Ile448Leu
XM_005272156.1:c.1342A>C	XP_005272213.1:p.Ile448Leu
XM_005272158.1:c.1180A>C	XP_005272215.1:p.Ile394Leu
XM_005272159.1:c.991A>C	XP_005272216.1:p.Ile331Leu
XM_005272162.1:c.145A>C	XP_005272219.1:p.Ile49Leu
XM_006716932.1:c.991A>C	XP_006716995.1:p.Ile331Leu
XM_011518140.1:c.1195A>C	XP_011516442.1:p.Ile399Leu
XM_011518141.1:c.1129A>C	XP_011516443.1:p.Ile377Leu
XM_011518142.1:c.1033A>C	XP_011516444.1:p.Ile345Leu
XM_011518143.1:c.1027A>C	XP_011516445.1:p.Ile343Leu
XM_011518144.1:c.1342A>C	XP_011516446.1:p.Ile448Leu
XM_011518145.1:c.886A>C	XP_011516447.1:p.Ile296Leu
XM_011518146.1:c.1027A>C	XP_011516448.1:p.Ile343Leu
XM_011518147.1:c.214A>C	XP_011516449.1:p.Ile72Leu
XR_929703.1:n.1518A>C
NM_001353193.1:c.1342A>C	NP_001340122.1:p.Ile448Leu
NM_001353194.1:c.1114A>C	NP_001340123.1:p.Ile372Leu
NM_001353195.1:c.925A>C	NP_001340124.1:p.Ile309Leu
NM_001353196.1:c.1186A>C	NP_001340125.1:p.Ile396Leu
NM_001353197.1:c.1180A>C	NP_001340126.1:p.Ile394Leu
NM_001353198.1:c.1180A>C	NP_001340127.1:p.Ile394Leu
NM_001353199.1:c.991A>C	NP_001340128.1:p.Ile331Leu
NM_001353200.1:c.820A>C	NP_001340129.1:p.Ile274Leu
NR_148391.1:n.1326A>C
NR_148392.1:n.1544A>C
NR_148393.1:n.1326A>C
NR_148394.1:n.1219A>C
NR_148395.1:n.1478A>C
NR_148396.1:n.1112A>C
NR_148397.1:n.1376A>C
NR_148398.1:n.1331A>C
NR_148399.1:n.1718A>C
NR_148400.1:n.1317A>C
XM_005272162.3:c.145A>C	XP_005272219.1:p.Ile49Leu
XM_006716932.2:c.991A>C	XP_006716995.1:p.Ile331Leu
XM_011518140.2:c.1195A>C	XP_011516442.1:p.Ile399Leu
XM_011518141.2:c.1129A>C	XP_011516443.1:p.Ile377Leu
XM_011518142.2:c.1033A>C	XP_011516444.1:p.Ile345Leu
XM_011518143.2:c.1027A>C	XP_011516445.1:p.Ile343Leu
XM_011518145.2:c.886A>C	XP_011516447.1:p.Ile296Leu
XM_017014205.2:c.145A>C	XP_016869694.1:p.Ile49Leu
XM_024447380.1:c.145A>C	XP_024303148.1:p.Ile49Leu
XM_024447381.1:c.451A>C	XP_024303149.1:p.Ile151Leu
XM_024447382.1:c.145A>C	XP_024303150.1:p.Ile49Leu
XR_001746160.2:n.1446A>C
XR_001746162.2:n.1512A>C
XR_001746164.1:n.1229A>C
XR_001746166.2:n.1663A>C
NM_001077365.2:c.1276A>C MANE Select	NP_001070833.1:p.Ile426Leu
NM_001077366.2:c.1114A>C	NP_001070834.1:p.Ile372Leu
NM_001136113.2:c.1276A>C	NP_001129585.1:p.Ile426Leu
NM_001136114.2:c.925A>C	NP_001129586.1:p.Ile309Leu
NM_001353193.2:c.1342A>C	NP_001340122.2:p.Ile448Leu
NM_001353194.2:c.1114A>C	NP_001340123.1:p.Ile372Leu
NM_001353195.2:c.925A>C	NP_001340124.1:p.Ile309Leu
NM_001353196.2:c.1186A>C	NP_001340125.1:p.Ile396Leu
NM_001353197.2:c.1180A>C	NP_001340126.2:p.Ile394Leu
NM_001353198.2:c.1180A>C	NP_001340127.2:p.Ile394Leu
NM_001353199.2:c.991A>C	NP_001340128.2:p.Ile331Leu
NM_001353200.2:c.820A>C	NP_001340129.1:p.Ile274Leu
NM_001374689.1:c.1264A>C	NP_001361618.1:p.Ile422Leu
NM_001374690.1:c.1276A>C	NP_001361619.1:p.Ile426Leu
NM_001374691.1:c.925A>C	NP_001361620.1:p.Ile309Leu
NM_001374692.1:c.925A>C	NP_001361621.1:p.Ile309Leu
NM_001374693.1:c.925A>C	NP_001361622.1:p.Ile309Leu
NM_001374695.1:c.886A>C	NP_001361624.1:p.Ile296Leu
NM_007171.4:c.1342A>C	NP_009102.4:p.Ile448Leu
NR_148391.2:n.1310A>C
NR_148392.2:n.1528A>C
NR_148393.2:n.1310A>C
NR_148394.2:n.1203A>C
NR_148395.2:n.1462A>C
NR_148396.2:n.1096A>C
NR_148397.2:n.1360A>C
NR_148398.2:n.1315A>C
NR_148399.2:n.1702A>C
NR_148400.2:n.1301A>C