Canonical Allele Identifier: CA200794881

Gene: POMT1

Linked Data

• ClinVar Variation Id: 755491
• ClinVar RCV Id: RCV001499291
• dbSNP Id: rs139720304
• gnomAD v2: 9-134393840-G-A
• gnomAD v3: 9-131518453-G-A
• gnomAD v4: 9-131518453-G-A
• MyVariant Identifiers: chr9:g.134393840G>A (hg19) ; chr9:g.131518453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518453G>A , CM000671.2:g.131518453G>A	GRCh38
NC_000009.11:g.134393840G>A , CM000671.1:g.134393840G>A	GRCh37
NC_000009.10:g.133383661G>A	NCBI36
NG_008896.1:g.20552G>A
NG_008896.2:g.20552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1119G>A	ENSP00000343034.7:p.Val373=
ENST00000404875.7:n.1821G>A
ENST00000423007.6:c.1338G>A	ENSP00000404119.2:p.Val446=
ENST00000677295.2:c.*1625G>A	ENSP00000504346.2:n.*1625G>A
ENST00000678264.2:c.*1464G>A	ENSP00000503157.2:n.*1464G>A
ENST00000682070.1:n.1746G>A
ENST00000682535.1:n.53G>A
ENST00000682539.1:c.219G>A
ENST00000682813.1:n.1546G>A
ENST00000683110.1:n.9G>A
ENST00000683392.1:n.4028G>A
ENST00000683712.1:n.1686G>A
ENST00000683900.1:n.3181G>A
ENST00000684062.1:n.1947G>A
ENST00000684579.1:n.3127G>A
ENST00000684679.1:n.508G>A
ENST00000341012.12:c.1119G>A	ENSP00000343034.7:p.Val373=
ENST00000372220.5:c.150G>A	ENSP00000361294.5:p.Val50=
ENST00000372228.9:c.1347G>A	ENSP00000361302.3:p.Val449=
ENST00000402686.8:c.1281G>A MANE Select	ENSP00000385797.4:p.Val427=
ENST00000676640.1:c.1281G>A	ENSP00000503281.1:p.Val427=
ENST00000676803.1:c.456G>A	ENSP00000503093.1:p.Val152=
ENST00000676835.1:c.*496G>A	ENSP00000502911.1:n.*496G>A
ENST00000677029.1:c.825G>A	ENSP00000502936.1:p.Val275=
ENST00000677099.1:c.*991G>A	ENSP00000504553.1:n.*991G>A
ENST00000677216.1:c.930G>A	ENSP00000503772.1:p.Val310=
ENST00000677221.1:n.306G>A
ENST00000677295.1:c.*658G>A	ENSP00000504346.1:n.*658G>A
ENST00000677444.1:c.1087G>A
ENST00000677586.1:n.762G>A
ENST00000677626.1:c.930G>A	ENSP00000503552.1:p.Val310=
ENST00000677677.1:n.1241G>A
ENST00000677853.1:c.*289G>A	ENSP00000503488.1:n.*289G>A
ENST00000677944.1:c.543G>A
ENST00000677983.1:n.370G>A
ENST00000678202.1:n.301G>A
ENST00000678264.1:c.*658G>A	ENSP00000503157.1:n.*658G>A
ENST00000678303.1:c.1191G>A	ENSP00000503696.1:p.Val397=
ENST00000678366.1:c.*1530G>A	ENSP00000504353.1:n.*1530G>A
ENST00000678546.1:c.*1226G>A	ENSP00000503062.1:n.*1226G>A
ENST00000678548.1:c.*1353G>A	ENSP00000503934.1:n.*1353G>A
ENST00000678626.1:n.978G>A
ENST00000678733.1:c.362G>A
ENST00000678739.1:c.*1607G>A	ENSP00000503806.1:n.*1607G>A
ENST00000678795.1:n.368G>A
ENST00000678833.1:c.*728G>A	ENSP00000503893.1:n.*728G>A
ENST00000678942.1:c.461G>A	ENSP00000504690.1:n.461G>A
ENST00000679023.1:c.1119G>A	ENSP00000503718.1:p.Val373=
ENST00000679076.1:c.900G>A
ENST00000679111.1:c.1281G>A	ENSP00000504257.1:p.Val427=
ENST00000679189.1:c.930G>A	ENSP00000503356.1:p.Val310=
ENST00000341012.11:c.1119G>A	ENSP00000343034.7:p.Val373=
ENST00000372220.4:c.144G>A	ENSP00000361294.4:p.Val48=
ENST00000372228.7:c.1347G>A	ENSP00000361302.3:p.Val449=
ENST00000402686.7:c.1281G>A	ENSP00000385797.3:p.Val427=
ENST00000404875.6:c.930G>A	ENSP00000384531.2:p.Val310=
ENST00000423007.5:c.1281G>A	ENSP00000404119.1:p.Val427=
ENST00000485278.5:n.1836G>A
NM_001077365.1:c.1281G>A	NP_001070833.1:p.Val427=
NM_001077366.1:c.1119G>A	NP_001070834.1:p.Val373=
NM_001136113.1:c.1281G>A	NP_001129585.1:p.Val427=
NM_001136114.1:c.930G>A	NP_001129586.1:p.Val310=
NM_007171.3:c.1347G>A	NP_009102.3:p.Val449=
XM_005272156.1:c.1347G>A	XP_005272213.1:p.Val449=
XM_005272158.1:c.1185G>A	XP_005272215.1:p.Val395=
XM_005272159.1:c.996G>A	XP_005272216.1:p.Val332=
XM_005272162.1:c.150G>A	XP_005272219.1:p.Val50=
XM_006716932.1:c.996G>A	XP_006716995.1:p.Val332=
XM_011518140.1:c.1200G>A	XP_011516442.1:p.Val400=
XM_011518141.1:c.1134G>A	XP_011516443.1:p.Val378=
XM_011518142.1:c.1038G>A	XP_011516444.1:p.Val346=
XM_011518143.1:c.1032G>A	XP_011516445.1:p.Val344=
XM_011518144.1:c.1347G>A	XP_011516446.1:p.Val449=
XM_011518145.1:c.891G>A	XP_011516447.1:p.Val297=
XM_011518146.1:c.1032G>A	XP_011516448.1:p.Val344=
XM_011518147.1:c.219G>A	XP_011516449.1:p.Val73=
XR_929703.1:n.1523G>A
NM_001353193.1:c.1347G>A	NP_001340122.1:p.Val449=
NM_001353194.1:c.1119G>A	NP_001340123.1:p.Val373=
NM_001353195.1:c.930G>A	NP_001340124.1:p.Val310=
NM_001353196.1:c.1191G>A	NP_001340125.1:p.Val397=
NM_001353197.1:c.1185G>A	NP_001340126.1:p.Val395=
NM_001353198.1:c.1185G>A	NP_001340127.1:p.Val395=
NM_001353199.1:c.996G>A	NP_001340128.1:p.Val332=
NM_001353200.1:c.825G>A	NP_001340129.1:p.Val275=
NR_148391.1:n.1331G>A
NR_148392.1:n.1549G>A
NR_148393.1:n.1331G>A
NR_148394.1:n.1224G>A
NR_148395.1:n.1483G>A
NR_148396.1:n.1117G>A
NR_148397.1:n.1381G>A
NR_148398.1:n.1336G>A
NR_148399.1:n.1723G>A
NR_148400.1:n.1322G>A
XM_005272162.3:c.150G>A	XP_005272219.1:p.Val50=
XM_006716932.2:c.996G>A	XP_006716995.1:p.Val332=
XM_011518140.2:c.1200G>A	XP_011516442.1:p.Val400=
XM_011518141.2:c.1134G>A	XP_011516443.1:p.Val378=
XM_011518142.2:c.1038G>A	XP_011516444.1:p.Val346=
XM_011518143.2:c.1032G>A	XP_011516445.1:p.Val344=
XM_011518145.2:c.891G>A	XP_011516447.1:p.Val297=
XM_017014205.2:c.150G>A	XP_016869694.1:p.Val50=
XM_024447380.1:c.150G>A	XP_024303148.1:p.Val50=
XM_024447381.1:c.456G>A	XP_024303149.1:p.Val152=
XM_024447382.1:c.150G>A	XP_024303150.1:p.Val50=
XR_001746160.2:n.1451G>A
XR_001746162.2:n.1517G>A
XR_001746164.1:n.1234G>A
XR_001746166.2:n.1668G>A
NM_001077365.2:c.1281G>A MANE Select	NP_001070833.1:p.Val427=
NM_001077366.2:c.1119G>A	NP_001070834.1:p.Val373=
NM_001136113.2:c.1281G>A	NP_001129585.1:p.Val427=
NM_001136114.2:c.930G>A	NP_001129586.1:p.Val310=
NM_001353193.2:c.1347G>A	NP_001340122.2:p.Val449=
NM_001353194.2:c.1119G>A	NP_001340123.1:p.Val373=
NM_001353195.2:c.930G>A	NP_001340124.1:p.Val310=
NM_001353196.2:c.1191G>A	NP_001340125.1:p.Val397=
NM_001353197.2:c.1185G>A	NP_001340126.2:p.Val395=
NM_001353198.2:c.1185G>A	NP_001340127.2:p.Val395=
NM_001353199.2:c.996G>A	NP_001340128.2:p.Val332=
NM_001353200.2:c.825G>A	NP_001340129.1:p.Val275=
NM_001374689.1:c.1269G>A	NP_001361618.1:p.Val423=
NM_001374690.1:c.1281G>A	NP_001361619.1:p.Val427=
NM_001374691.1:c.930G>A	NP_001361620.1:p.Val310=
NM_001374692.1:c.930G>A	NP_001361621.1:p.Val310=
NM_001374693.1:c.930G>A	NP_001361622.1:p.Val310=
NM_001374695.1:c.891G>A	NP_001361624.1:p.Val297=
NM_007171.4:c.1347G>A	NP_009102.4:p.Val449=
NR_148391.2:n.1315G>A
NR_148392.2:n.1533G>A
NR_148393.2:n.1315G>A
NR_148394.2:n.1208G>A
NR_148395.2:n.1467G>A
NR_148396.2:n.1101G>A
NR_148397.2:n.1365G>A
NR_148398.2:n.1320G>A
NR_148399.2:n.1707G>A
NR_148400.2:n.1306G>A