Canonical Allele Identifier: CA467423476

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394226G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518839G>C , CM000671.2:g.131518839G>C	GRCh38
NC_000009.11:g.134394226G>C , CM000671.1:g.134394226G>C	GRCh37
NC_000009.10:g.133384047G>C	NCBI36
NG_008896.1:g.20938G>C
NG_008896.2:g.20938G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1206G>C	ENSP00000343034.7:p.Leu402=
ENST00000404875.7:n.1908G>C
ENST00000423007.6:c.1425G>C	ENSP00000404119.2:p.Leu475=
ENST00000677295.2:c.*1712G>C	ENSP00000504346.2:n.*1712G>C
ENST00000678264.2:c.*1551G>C	ENSP00000503157.2:n.*1551G>C
ENST00000682070.1:n.1833G>C
ENST00000682539.1:c.306G>C
ENST00000682813.1:n.1772G>C
ENST00000683392.1:n.4115G>C
ENST00000683712.1:n.1773G>C
ENST00000683900.1:n.3268G>C
ENST00000684062.1:n.2034G>C
ENST00000684579.1:n.3214G>C
ENST00000684679.1:n.595G>C
ENST00000341012.12:c.1206G>C	ENSP00000343034.7:p.Leu402=
ENST00000372220.5:c.237G>C	ENSP00000361294.5:p.Leu79=
ENST00000372228.9:c.1434G>C	ENSP00000361302.3:p.Leu478=
ENST00000402686.8:c.1368G>C MANE Select	ENSP00000385797.4:p.Leu456=
ENST00000676640.1:c.1368G>C	ENSP00000503281.1:p.Leu456=
ENST00000676803.1:c.543G>C	ENSP00000503093.1:p.Leu181=
ENST00000676835.1:c.*583G>C	ENSP00000502911.1:n.*583G>C
ENST00000677029.1:c.912G>C	ENSP00000502936.1:p.Leu304=
ENST00000677099.1:c.*1078G>C	ENSP00000504553.1:n.*1078G>C
ENST00000677216.1:c.1017G>C	ENSP00000503772.1:p.Leu339=
ENST00000677221.1:n.393G>C
ENST00000677295.1:c.*745G>C	ENSP00000504346.1:n.*745G>C
ENST00000677444.1:c.1313G>C
ENST00000677586.1:n.849G>C
ENST00000677626.1:c.1017G>C	ENSP00000503552.1:p.Leu339=
ENST00000677677.1:n.1328G>C
ENST00000677853.1:c.*376G>C	ENSP00000503488.1:n.*376G>C
ENST00000678202.1:n.527G>C
ENST00000678264.1:c.*745G>C	ENSP00000503157.1:n.*745G>C
ENST00000678303.1:c.1278G>C	ENSP00000503696.1:p.Leu426=
ENST00000678366.1:c.*1617G>C	ENSP00000504353.1:n.*1617G>C
ENST00000678546.1:c.*1313G>C	ENSP00000503062.1:n.*1313G>C
ENST00000678548.1:c.*1440G>C	ENSP00000503934.1:n.*1440G>C
ENST00000678626.1:n.1204G>C
ENST00000678733.1:c.449G>C
ENST00000678739.1:c.*1694G>C	ENSP00000503806.1:n.*1694G>C
ENST00000678833.1:c.*815G>C	ENSP00000503893.1:n.*815G>C
ENST00000679023.1:c.1206G>C	ENSP00000503718.1:p.Leu402=
ENST00000679076.1:c.987G>C
ENST00000679111.1:c.*124G>C	ENSP00000504257.1:n.*124G>C
ENST00000679189.1:c.1017G>C	ENSP00000503356.1:p.Leu339=
ENST00000341012.11:c.1206G>C	ENSP00000343034.7:p.Leu402=
ENST00000372220.4:c.231G>C	ENSP00000361294.4:p.Leu77=
ENST00000372228.7:c.1434G>C	ENSP00000361302.3:p.Leu478=
ENST00000402686.7:c.1368G>C	ENSP00000385797.3:p.Leu456=
ENST00000404875.6:c.1017G>C	ENSP00000384531.2:p.Leu339=
ENST00000423007.5:c.1368G>C	ENSP00000404119.1:p.Leu456=
ENST00000467848.1:n.72G>C
ENST00000485278.5:n.1923G>C
NM_001077365.1:c.1368G>C	NP_001070833.1:p.Leu456=
NM_001077366.1:c.1206G>C	NP_001070834.1:p.Leu402=
NM_001136113.1:c.1368G>C	NP_001129585.1:p.Leu456=
NM_001136114.1:c.1017G>C	NP_001129586.1:p.Leu339=
NM_007171.3:c.1434G>C	NP_009102.3:p.Leu478=
XM_005272156.1:c.1434G>C	XP_005272213.1:p.Leu478=
XM_005272158.1:c.1272G>C	XP_005272215.1:p.Leu424=
XM_005272159.1:c.1083G>C	XP_005272216.1:p.Leu361=
XM_005272162.1:c.237G>C	XP_005272219.1:p.Leu79=
XM_006716932.1:c.1083G>C	XP_006716995.1:p.Leu361=
XM_011518140.1:c.1287G>C	XP_011516442.1:p.Leu429=
XM_011518141.1:c.1221G>C	XP_011516443.1:p.Leu407=
XM_011518142.1:c.1125G>C	XP_011516444.1:p.Leu375=
XM_011518143.1:c.1119G>C	XP_011516445.1:p.Leu373=
XM_011518144.1:c.*124G>C	XP_011516446.1:n.*124G>C
XM_011518145.1:c.978G>C	XP_011516447.1:p.Leu326=
XM_011518146.1:c.*124G>C	XP_011516448.1:n.*124G>C
XM_011518147.1:c.306G>C	XP_011516449.1:p.Leu102=
XR_929703.1:n.1610G>C
NM_001353193.1:c.1434G>C	NP_001340122.1:p.Leu478=
NM_001353194.1:c.1206G>C	NP_001340123.1:p.Leu402=
NM_001353195.1:c.1017G>C	NP_001340124.1:p.Leu339=
NM_001353196.1:c.1278G>C	NP_001340125.1:p.Leu426=
NM_001353197.1:c.1272G>C	NP_001340126.1:p.Leu424=
NM_001353198.1:c.1272G>C	NP_001340127.1:p.Leu424=
NM_001353199.1:c.1083G>C	NP_001340128.1:p.Leu361=
NM_001353200.1:c.912G>C	NP_001340129.1:p.Leu304=
NR_148391.1:n.1418G>C
NR_148392.1:n.1636G>C
NR_148393.1:n.1557G>C
NR_148394.1:n.1311G>C
NR_148395.1:n.1709G>C
NR_148396.1:n.1343G>C
NR_148397.1:n.1468G>C
NR_148398.1:n.1423G>C
NR_148399.1:n.1949G>C
NR_148400.1:n.1548G>C
XM_005272162.3:c.237G>C	XP_005272219.1:p.Leu79=
XM_006716932.2:c.1083G>C	XP_006716995.1:p.Leu361=
XM_011518140.2:c.1287G>C	XP_011516442.1:p.Leu429=
XM_011518141.2:c.1221G>C	XP_011516443.1:p.Leu407=
XM_011518142.2:c.1125G>C	XP_011516444.1:p.Leu375=
XM_011518143.2:c.1119G>C	XP_011516445.1:p.Leu373=
XM_011518145.2:c.978G>C	XP_011516447.1:p.Leu326=
XM_017014205.2:c.237G>C	XP_016869694.1:p.Leu79=
XM_024447380.1:c.237G>C	XP_024303148.1:p.Leu79=
XM_024447381.1:c.543G>C	XP_024303149.1:p.Leu181=
XM_024447382.1:c.237G>C	XP_024303150.1:p.Leu79=
XR_001746160.2:n.1538G>C
XR_001746162.2:n.1743G>C
XR_001746164.1:n.1460G>C
XR_001746166.2:n.1755G>C
NM_001077365.2:c.1368G>C MANE Select	NP_001070833.1:p.Leu456=
NM_001077366.2:c.1206G>C	NP_001070834.1:p.Leu402=
NM_001136113.2:c.1368G>C	NP_001129585.1:p.Leu456=
NM_001136114.2:c.1017G>C	NP_001129586.1:p.Leu339=
NM_001353193.2:c.1434G>C	NP_001340122.2:p.Leu478=
NM_001353194.2:c.1206G>C	NP_001340123.1:p.Leu402=
NM_001353195.2:c.1017G>C	NP_001340124.1:p.Leu339=
NM_001353196.2:c.1278G>C	NP_001340125.1:p.Leu426=
NM_001353197.2:c.1272G>C	NP_001340126.2:p.Leu424=
NM_001353198.2:c.1272G>C	NP_001340127.2:p.Leu424=
NM_001353199.2:c.1083G>C	NP_001340128.2:p.Leu361=
NM_001353200.2:c.912G>C	NP_001340129.1:p.Leu304=
NM_001374689.1:c.1356G>C	NP_001361618.1:p.Leu452=
NM_001374690.1:c.1365+302G>C	NP_001361619.1:n.1365+302G>C
NM_001374691.1:c.1017G>C	NP_001361620.1:p.Leu339=
NM_001374692.1:c.1017G>C	NP_001361621.1:p.Leu339=
NM_001374693.1:c.1017G>C	NP_001361622.1:p.Leu339=
NM_001374695.1:c.978G>C	NP_001361624.1:p.Leu326=
NM_007171.4:c.1434G>C	NP_009102.4:p.Leu478=
NR_148391.2:n.1402G>C
NR_148392.2:n.1620G>C
NR_148393.2:n.1541G>C
NR_148394.2:n.1295G>C
NR_148395.2:n.1693G>C
NR_148396.2:n.1327G>C
NR_148397.2:n.1452G>C
NR_148398.2:n.1407G>C
NR_148399.2:n.1933G>C
NR_148400.2:n.1532G>C