Canonical Allele Identifier: CA375311376

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393886G>T (hg19) ; chr9:g.131518499G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518499G>T , CM000671.2:g.131518499G>T	GRCh38
NC_000009.11:g.134393886G>T , CM000671.1:g.134393886G>T	GRCh37
NC_000009.10:g.133383707G>T	NCBI36
NG_008896.1:g.20598G>T
NG_008896.2:g.20598G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1165G>T	ENSP00000343034.7:p.Val389Phe
ENST00000404875.7:n.1867G>T
ENST00000423007.6:c.1384G>T	ENSP00000404119.2:p.Val462Phe
ENST00000677295.2:c.*1671G>T	ENSP00000504346.2:n.*1671G>T
ENST00000678264.2:c.*1510G>T	ENSP00000503157.2:n.*1510G>T
ENST00000682070.1:n.1792G>T
ENST00000682535.1:n.99G>T
ENST00000682539.1:c.265G>T
ENST00000682813.1:n.1592G>T
ENST00000683110.1:n.55G>T
ENST00000683392.1:n.4074G>T
ENST00000683712.1:n.1732G>T
ENST00000683900.1:n.3227G>T
ENST00000684062.1:n.1993G>T
ENST00000684579.1:n.3173G>T
ENST00000684679.1:n.554G>T
ENST00000341012.12:c.1165G>T	ENSP00000343034.7:p.Val389Phe
ENST00000372220.5:c.196G>T	ENSP00000361294.5:p.Val66Phe
ENST00000372228.9:c.1393G>T	ENSP00000361302.3:p.Val465Phe
ENST00000402686.8:c.1327G>T MANE Select	ENSP00000385797.4:p.Val443Phe
ENST00000676640.1:c.1327G>T	ENSP00000503281.1:p.Val443Phe
ENST00000676803.1:c.502G>T	ENSP00000503093.1:p.Val168Phe
ENST00000676835.1:c.*542G>T	ENSP00000502911.1:n.*542G>T
ENST00000677029.1:c.871G>T	ENSP00000502936.1:p.Val291Phe
ENST00000677099.1:c.*1037G>T	ENSP00000504553.1:n.*1037G>T
ENST00000677216.1:c.976G>T	ENSP00000503772.1:p.Val326Phe
ENST00000677221.1:n.352G>T
ENST00000677295.1:c.*704G>T	ENSP00000504346.1:n.*704G>T
ENST00000677444.1:c.1133G>T
ENST00000677586.1:n.808G>T
ENST00000677626.1:c.976G>T	ENSP00000503552.1:p.Val326Phe
ENST00000677677.1:n.1287G>T
ENST00000677853.1:c.*335G>T	ENSP00000503488.1:n.*335G>T
ENST00000677983.1:n.416G>T
ENST00000678202.1:n.347G>T
ENST00000678264.1:c.*704G>T	ENSP00000503157.1:n.*704G>T
ENST00000678303.1:c.1237G>T	ENSP00000503696.1:p.Val413Phe
ENST00000678366.1:c.*1576G>T	ENSP00000504353.1:n.*1576G>T
ENST00000678546.1:c.*1272G>T	ENSP00000503062.1:n.*1272G>T
ENST00000678548.1:c.*1399G>T	ENSP00000503934.1:n.*1399G>T
ENST00000678626.1:n.1024G>T
ENST00000678733.1:c.408G>T
ENST00000678739.1:c.*1653G>T	ENSP00000503806.1:n.*1653G>T
ENST00000678795.1:n.414G>T
ENST00000678833.1:c.*774G>T	ENSP00000503893.1:n.*774G>T
ENST00000678942.1:c.507G>T	ENSP00000504690.1:n.507G>T
ENST00000679023.1:c.1165G>T	ENSP00000503718.1:p.Val389Phe
ENST00000679076.1:c.946G>T
ENST00000679111.1:c.1327G>T	ENSP00000504257.1:p.Val443Phe
ENST00000679189.1:c.976G>T	ENSP00000503356.1:p.Val326Phe
ENST00000341012.11:c.1165G>T	ENSP00000343034.7:p.Val389Phe
ENST00000372220.4:c.190G>T	ENSP00000361294.4:p.Val64Phe
ENST00000372228.7:c.1393G>T	ENSP00000361302.3:p.Val465Phe
ENST00000402686.7:c.1327G>T	ENSP00000385797.3:p.Val443Phe
ENST00000404875.6:c.976G>T	ENSP00000384531.2:p.Val326Phe
ENST00000423007.5:c.1327G>T	ENSP00000404119.1:p.Val443Phe
ENST00000485278.5:n.1882G>T
NM_001077365.1:c.1327G>T	NP_001070833.1:p.Val443Phe
NM_001077366.1:c.1165G>T	NP_001070834.1:p.Val389Phe
NM_001136113.1:c.1327G>T	NP_001129585.1:p.Val443Phe
NM_001136114.1:c.976G>T	NP_001129586.1:p.Val326Phe
NM_007171.3:c.1393G>T	NP_009102.3:p.Val465Phe
XM_005272156.1:c.1393G>T	XP_005272213.1:p.Val465Phe
XM_005272158.1:c.1231G>T	XP_005272215.1:p.Val411Phe
XM_005272159.1:c.1042G>T	XP_005272216.1:p.Val348Phe
XM_005272162.1:c.196G>T	XP_005272219.1:p.Val66Phe
XM_006716932.1:c.1042G>T	XP_006716995.1:p.Val348Phe
XM_011518140.1:c.1246G>T	XP_011516442.1:p.Val416Phe
XM_011518141.1:c.1180G>T	XP_011516443.1:p.Val394Phe
XM_011518142.1:c.1084G>T	XP_011516444.1:p.Val362Phe
XM_011518143.1:c.1078G>T	XP_011516445.1:p.Val360Phe
XM_011518144.1:c.1393G>T	XP_011516446.1:p.Val465Phe
XM_011518145.1:c.937G>T	XP_011516447.1:p.Val313Phe
XM_011518146.1:c.1078G>T	XP_011516448.1:p.Val360Phe
XM_011518147.1:c.265G>T	XP_011516449.1:p.Val89Phe
XR_929703.1:n.1569G>T
NM_001353193.1:c.1393G>T	NP_001340122.1:p.Val465Phe
NM_001353194.1:c.1165G>T	NP_001340123.1:p.Val389Phe
NM_001353195.1:c.976G>T	NP_001340124.1:p.Val326Phe
NM_001353196.1:c.1237G>T	NP_001340125.1:p.Val413Phe
NM_001353197.1:c.1231G>T	NP_001340126.1:p.Val411Phe
NM_001353198.1:c.1231G>T	NP_001340127.1:p.Val411Phe
NM_001353199.1:c.1042G>T	NP_001340128.1:p.Val348Phe
NM_001353200.1:c.871G>T	NP_001340129.1:p.Val291Phe
NR_148391.1:n.1377G>T
NR_148392.1:n.1595G>T
NR_148393.1:n.1377G>T
NR_148394.1:n.1270G>T
NR_148395.1:n.1529G>T
NR_148396.1:n.1163G>T
NR_148397.1:n.1427G>T
NR_148398.1:n.1382G>T
NR_148399.1:n.1769G>T
NR_148400.1:n.1368G>T
XM_005272162.3:c.196G>T	XP_005272219.1:p.Val66Phe
XM_006716932.2:c.1042G>T	XP_006716995.1:p.Val348Phe
XM_011518140.2:c.1246G>T	XP_011516442.1:p.Val416Phe
XM_011518141.2:c.1180G>T	XP_011516443.1:p.Val394Phe
XM_011518142.2:c.1084G>T	XP_011516444.1:p.Val362Phe
XM_011518143.2:c.1078G>T	XP_011516445.1:p.Val360Phe
XM_011518145.2:c.937G>T	XP_011516447.1:p.Val313Phe
XM_017014205.2:c.196G>T	XP_016869694.1:p.Val66Phe
XM_024447380.1:c.196G>T	XP_024303148.1:p.Val66Phe
XM_024447381.1:c.502G>T	XP_024303149.1:p.Val168Phe
XM_024447382.1:c.196G>T	XP_024303150.1:p.Val66Phe
XR_001746160.2:n.1497G>T
XR_001746162.2:n.1563G>T
XR_001746164.1:n.1280G>T
XR_001746166.2:n.1714G>T
NM_001077365.2:c.1327G>T MANE Select	NP_001070833.1:p.Val443Phe
NM_001077366.2:c.1165G>T	NP_001070834.1:p.Val389Phe
NM_001136113.2:c.1327G>T	NP_001129585.1:p.Val443Phe
NM_001136114.2:c.976G>T	NP_001129586.1:p.Val326Phe
NM_001353193.2:c.1393G>T	NP_001340122.2:p.Val465Phe
NM_001353194.2:c.1165G>T	NP_001340123.1:p.Val389Phe
NM_001353195.2:c.976G>T	NP_001340124.1:p.Val326Phe
NM_001353196.2:c.1237G>T	NP_001340125.1:p.Val413Phe
NM_001353197.2:c.1231G>T	NP_001340126.2:p.Val411Phe
NM_001353198.2:c.1231G>T	NP_001340127.2:p.Val411Phe
NM_001353199.2:c.1042G>T	NP_001340128.2:p.Val348Phe
NM_001353200.2:c.871G>T	NP_001340129.1:p.Val291Phe
NM_001374689.1:c.1315G>T	NP_001361618.1:p.Val439Phe
NM_001374690.1:c.1327G>T	NP_001361619.1:p.Val443Phe
NM_001374691.1:c.976G>T	NP_001361620.1:p.Val326Phe
NM_001374692.1:c.976G>T	NP_001361621.1:p.Val326Phe
NM_001374693.1:c.976G>T	NP_001361622.1:p.Val326Phe
NM_001374695.1:c.937G>T	NP_001361624.1:p.Val313Phe
NM_007171.4:c.1393G>T	NP_009102.4:p.Val465Phe
NR_148391.2:n.1361G>T
NR_148392.2:n.1579G>T
NR_148393.2:n.1361G>T
NR_148394.2:n.1254G>T
NR_148395.2:n.1513G>T
NR_148396.2:n.1147G>T
NR_148397.2:n.1411G>T
NR_148398.2:n.1366G>T
NR_148399.2:n.1753G>T
NR_148400.2:n.1352G>T