Canonical Allele Identifier: CA375309991

Gene: POMT1

Linked Data

• gnomAD v4: 9-131515475-T-C
• MyVariant Identifiers: chr9:g.134390862T>C (hg19) ; chr9:g.131515475T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515475T>C , CM000671.2:g.131515475T>C	GRCh38
NC_000009.11:g.134390862T>C , CM000671.1:g.134390862T>C	GRCh37
NC_000009.10:g.133380683T>C	NCBI36
NG_008896.1:g.17574T>C
NG_008896.2:g.17574T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1063T>C	ENSP00000343034.7:p.Tyr355His
ENST00000404875.7:n.1765T>C
ENST00000423007.6:c.1282T>C	ENSP00000404119.2:p.Tyr428His
ENST00000677295.2:c.*1569T>C	ENSP00000504346.2:n.*1569T>C
ENST00000678264.2:c.*1408T>C	ENSP00000503157.2:n.*1408T>C
ENST00000682070.1:n.1690T>C
ENST00000682539.1:c.50T>C
ENST00000682813.1:n.1490T>C
ENST00000683392.1:n.3972T>C
ENST00000683712.1:n.1630T>C
ENST00000683900.1:n.3125T>C
ENST00000684062.1:n.1891T>C
ENST00000684579.1:n.3071T>C
ENST00000341012.12:c.1063T>C	ENSP00000343034.7:p.Tyr355His
ENST00000372220.5:c.94T>C	ENSP00000361294.5:p.Tyr32His
ENST00000372228.9:c.1291T>C	ENSP00000361302.3:p.Tyr431His
ENST00000402686.8:c.1225T>C MANE Select	ENSP00000385797.4:p.Tyr409His
ENST00000676640.1:c.1225T>C	ENSP00000503281.1:p.Tyr409His
ENST00000676803.1:c.400T>C	ENSP00000503093.1:p.Tyr134His
ENST00000676835.1:c.*440T>C	ENSP00000502911.1:n.*440T>C
ENST00000677029.1:c.769T>C	ENSP00000502936.1:p.Tyr257His
ENST00000677099.1:c.*935T>C	ENSP00000504553.1:n.*935T>C
ENST00000677216.1:c.874T>C	ENSP00000503772.1:p.Tyr292His
ENST00000677295.1:c.*602T>C	ENSP00000504346.1:n.*602T>C
ENST00000677444.1:c.1031T>C
ENST00000677586.1:n.706T>C
ENST00000677626.1:c.874T>C	ENSP00000503552.1:p.Tyr292His
ENST00000677677.1:n.1185T>C
ENST00000677853.1:c.*233T>C	ENSP00000503488.1:n.*233T>C
ENST00000677944.1:c.487T>C
ENST00000678264.1:c.*602T>C	ENSP00000503157.1:n.*602T>C
ENST00000678303.1:c.1135T>C	ENSP00000503696.1:p.Tyr379His
ENST00000678366.1:c.*1474T>C	ENSP00000504353.1:n.*1474T>C
ENST00000678546.1:c.*1170T>C	ENSP00000503062.1:n.*1170T>C
ENST00000678548.1:c.*1297T>C	ENSP00000503934.1:n.*1297T>C
ENST00000678626.1:n.922T>C
ENST00000678733.1:c.306T>C
ENST00000678739.1:c.*1551T>C	ENSP00000503806.1:n.*1551T>C
ENST00000678795.1:n.312T>C
ENST00000678833.1:c.*672T>C	ENSP00000503893.1:n.*672T>C
ENST00000678942.1:c.405T>C	ENSP00000504690.1:n.405T>C
ENST00000679023.1:c.1063T>C	ENSP00000503718.1:p.Tyr355His
ENST00000679076.1:c.844T>C
ENST00000679111.1:c.1225T>C	ENSP00000504257.1:p.Tyr409His
ENST00000679189.1:c.874T>C	ENSP00000503356.1:p.Tyr292His
ENST00000341012.11:c.1063T>C	ENSP00000343034.7:p.Tyr355His
ENST00000372228.7:c.1291T>C	ENSP00000361302.3:p.Tyr431His
ENST00000402686.7:c.1225T>C	ENSP00000385797.3:p.Tyr409His
ENST00000404875.6:c.874T>C	ENSP00000384531.2:p.Tyr292His
ENST00000423007.5:c.1225T>C	ENSP00000404119.1:p.Tyr409His
ENST00000485278.5:n.1780T>C
NM_001077365.1:c.1225T>C	NP_001070833.1:p.Tyr409His
NM_001077366.1:c.1063T>C	NP_001070834.1:p.Tyr355His
NM_001136113.1:c.1225T>C	NP_001129585.1:p.Tyr409His
NM_001136114.1:c.874T>C	NP_001129586.1:p.Tyr292His
NM_007171.3:c.1291T>C	NP_009102.3:p.Tyr431His
XM_005272156.1:c.1291T>C	XP_005272213.1:p.Tyr431His
XM_005272158.1:c.1129T>C	XP_005272215.1:p.Tyr377His
XM_005272159.1:c.940T>C	XP_005272216.1:p.Tyr314His
XM_005272162.1:c.94T>C	XP_005272219.1:p.Tyr32His
XM_006716932.1:c.940T>C	XP_006716995.1:p.Tyr314His
XM_011518140.1:c.1144T>C	XP_011516442.1:p.Tyr382His
XM_011518141.1:c.1078T>C	XP_011516443.1:p.Tyr360His
XM_011518142.1:c.982T>C	XP_011516444.1:p.Tyr328His
XM_011518143.1:c.976T>C	XP_011516445.1:p.Tyr326His
XM_011518144.1:c.1291T>C	XP_011516446.1:p.Tyr431His
XM_011518145.1:c.835T>C	XP_011516447.1:p.Tyr279His
XM_011518146.1:c.976T>C	XP_011516448.1:p.Tyr326His
XR_929703.1:n.1467T>C
NM_001353193.1:c.1291T>C	NP_001340122.1:p.Tyr431His
NM_001353194.1:c.1063T>C	NP_001340123.1:p.Tyr355His
NM_001353195.1:c.874T>C	NP_001340124.1:p.Tyr292His
NM_001353196.1:c.1135T>C	NP_001340125.1:p.Tyr379His
NM_001353197.1:c.1129T>C	NP_001340126.1:p.Tyr377His
NM_001353198.1:c.1129T>C	NP_001340127.1:p.Tyr377His
NM_001353199.1:c.940T>C	NP_001340128.1:p.Tyr314His
NM_001353200.1:c.769T>C	NP_001340129.1:p.Tyr257His
NR_148391.1:n.1275T>C
NR_148392.1:n.1493T>C
NR_148393.1:n.1275T>C
NR_148394.1:n.1168T>C
NR_148395.1:n.1427T>C
NR_148396.1:n.1061T>C
NR_148397.1:n.1325T>C
NR_148398.1:n.1280T>C
NR_148399.1:n.1667T>C
NR_148400.1:n.1266T>C
XM_005272162.3:c.94T>C	XP_005272219.1:p.Tyr32His
XM_006716932.2:c.940T>C	XP_006716995.1:p.Tyr314His
XM_011518140.2:c.1144T>C	XP_011516442.1:p.Tyr382His
XM_011518141.2:c.1078T>C	XP_011516443.1:p.Tyr360His
XM_011518142.2:c.982T>C	XP_011516444.1:p.Tyr328His
XM_011518143.2:c.976T>C	XP_011516445.1:p.Tyr326His
XM_011518145.2:c.835T>C	XP_011516447.1:p.Tyr279His
XM_017014205.2:c.94T>C	XP_016869694.1:p.Tyr32His
XM_024447380.1:c.94T>C	XP_024303148.1:p.Tyr32His
XM_024447381.1:c.400T>C	XP_024303149.1:p.Tyr134His
XM_024447382.1:c.94T>C	XP_024303150.1:p.Tyr32His
XR_001746160.2:n.1395T>C
XR_001746162.2:n.1461T>C
XR_001746164.1:n.1178T>C
XR_001746166.2:n.1612T>C
NM_001077365.2:c.1225T>C MANE Select	NP_001070833.1:p.Tyr409His
NM_001077366.2:c.1063T>C	NP_001070834.1:p.Tyr355His
NM_001136113.2:c.1225T>C	NP_001129585.1:p.Tyr409His
NM_001136114.2:c.874T>C	NP_001129586.1:p.Tyr292His
NM_001353193.2:c.1291T>C	NP_001340122.2:p.Tyr431His
NM_001353194.2:c.1063T>C	NP_001340123.1:p.Tyr355His
NM_001353195.2:c.874T>C	NP_001340124.1:p.Tyr292His
NM_001353196.2:c.1135T>C	NP_001340125.1:p.Tyr379His
NM_001353197.2:c.1129T>C	NP_001340126.2:p.Tyr377His
NM_001353198.2:c.1129T>C	NP_001340127.2:p.Tyr377His
NM_001353199.2:c.940T>C	NP_001340128.2:p.Tyr314His
NM_001353200.2:c.769T>C	NP_001340129.1:p.Tyr257His
NM_001374689.1:c.1213T>C	NP_001361618.1:p.Tyr405His
NM_001374690.1:c.1225T>C	NP_001361619.1:p.Tyr409His
NM_001374691.1:c.874T>C	NP_001361620.1:p.Tyr292His
NM_001374692.1:c.874T>C	NP_001361621.1:p.Tyr292His
NM_001374693.1:c.874T>C	NP_001361622.1:p.Tyr292His
NM_001374695.1:c.835T>C	NP_001361624.1:p.Tyr279His
NM_007171.4:c.1291T>C	NP_009102.4:p.Tyr431His
NR_148391.2:n.1259T>C
NR_148392.2:n.1477T>C
NR_148393.2:n.1259T>C
NR_148394.2:n.1152T>C
NR_148395.2:n.1411T>C
NR_148396.2:n.1045T>C
NR_148397.2:n.1309T>C
NR_148398.2:n.1264T>C
NR_148399.2:n.1651T>C
NR_148400.2:n.1250T>C