Canonical Allele Identifier: CA5293818

Gene: POMT1

Linked Data

• ClinVar Variation Id: 2937160
• ClinVar RCV Id: RCV003791350
• dbSNP Id: rs775106426
• ExAC: 9:134396804 G / A
• gnomAD v2: 9-134396804-G-A
• gnomAD v3: 9-131521417-G-A
• gnomAD v4: 9-131521417-G-A
• MyVariant Identifiers: chr9:g.134396804G>A (hg19) ; chr9:g.131521417G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521417G>A , CM000671.2:g.131521417G>A	GRCh38
NC_000009.11:g.134396804G>A , CM000671.1:g.134396804G>A	GRCh37
NC_000009.10:g.133386625G>A	NCBI36
NG_008896.1:g.23516G>A
NG_008896.2:g.23516G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1608G>A	ENSP00000343034.7:p.Leu536=
ENST00000404875.7:n.2310G>A
ENST00000423007.6:c.1827G>A	ENSP00000404119.2:p.Leu609=
ENST00000677295.2:c.*2114G>A	ENSP00000504346.2:n.*2114G>A
ENST00000678264.2:c.*1953G>A	ENSP00000503157.2:n.*1953G>A
ENST00000682070.1:n.2235G>A
ENST00000682813.1:n.2174G>A
ENST00000683392.1:n.4517G>A
ENST00000683712.1:n.2175G>A
ENST00000683900.1:n.3670G>A
ENST00000684062.1:n.2436G>A
ENST00000684579.1:n.3616G>A
ENST00000684679.1:n.997G>A
ENST00000341012.12:c.1608G>A	ENSP00000343034.7:p.Leu536=
ENST00000372220.5:c.639G>A	ENSP00000361294.5:p.Leu213=
ENST00000372228.9:c.1836G>A	ENSP00000361302.3:p.Leu612=
ENST00000402686.8:c.1770G>A MANE Select	ENSP00000385797.4:p.Leu590=
ENST00000676640.1:c.1770G>A	ENSP00000503281.1:p.Leu590=
ENST00000676803.1:c.831G>A	ENSP00000503093.1:p.Leu277=
ENST00000676835.1:c.*985G>A	ENSP00000502911.1:n.*985G>A
ENST00000677029.1:c.1314G>A	ENSP00000502936.1:p.Leu438=
ENST00000677099.1:c.*1480G>A	ENSP00000504553.1:n.*1480G>A
ENST00000677216.1:c.1419G>A	ENSP00000503772.1:p.Leu473=
ENST00000677221.1:n.795G>A
ENST00000677295.1:c.*1147G>A	ENSP00000504346.1:n.*1147G>A
ENST00000677444.1:c.1715G>A
ENST00000677586.1:n.1137G>A
ENST00000677626.1:c.1419G>A	ENSP00000503552.1:p.Leu473=
ENST00000677853.1:c.*778G>A	ENSP00000503488.1:n.*778G>A
ENST00000678202.1:n.929G>A
ENST00000678264.1:c.*1147G>A	ENSP00000503157.1:n.*1147G>A
ENST00000678303.1:c.1680G>A	ENSP00000503696.1:p.Leu560=
ENST00000678366.1:c.*2019G>A	ENSP00000504353.1:n.*2019G>A
ENST00000678546.1:c.*1715G>A	ENSP00000503062.1:n.*1715G>A
ENST00000678548.1:c.*1842G>A	ENSP00000503934.1:n.*1842G>A
ENST00000678626.1:n.1606G>A
ENST00000678739.1:c.*2091G>A	ENSP00000503806.1:n.*2091G>A
ENST00000678833.1:c.*1522G>A	ENSP00000503893.1:n.*1522G>A
ENST00000679023.1:c.1608G>A	ENSP00000503718.1:p.Leu536=
ENST00000679076.1:c.1389G>A
ENST00000679111.1:c.*526G>A	ENSP00000504257.1:n.*526G>A
ENST00000679189.1:c.1419G>A	ENSP00000503356.1:p.Leu473=
ENST00000341012.11:c.1608G>A	ENSP00000343034.7:p.Leu536=
ENST00000372220.4:c.633G>A	ENSP00000361294.4:p.Leu211=
ENST00000372228.7:c.1836G>A	ENSP00000361302.3:p.Leu612=
ENST00000402686.7:c.1770G>A	ENSP00000385797.3:p.Leu590=
ENST00000404875.6:c.1419G>A	ENSP00000384531.2:p.Leu473=
ENST00000423007.5:c.1770G>A	ENSP00000404119.1:p.Leu590=
ENST00000485278.5:n.2320G>A
ENST00000494883.1:n.313G>A
NM_001077365.1:c.1770G>A	NP_001070833.1:p.Leu590=
NM_001077366.1:c.1608G>A	NP_001070834.1:p.Leu536=
NM_001136113.1:c.1770G>A	NP_001129585.1:p.Leu590=
NM_001136114.1:c.1419G>A	NP_001129586.1:p.Leu473=
NM_007171.3:c.1836G>A	NP_009102.3:p.Leu612=
XM_005272156.1:c.1836G>A	XP_005272213.1:p.Leu612=
XM_005272158.1:c.1674G>A	XP_005272215.1:p.Leu558=
XM_005272159.1:c.1485G>A	XP_005272216.1:p.Leu495=
XM_005272162.1:c.639G>A	XP_005272219.1:p.Leu213=
XM_006716932.1:c.1485G>A	XP_006716995.1:p.Leu495=
XM_011518140.1:c.1689G>A	XP_011516442.1:p.Leu563=
XM_011518141.1:c.1623G>A	XP_011516443.1:p.Leu541=
XM_011518142.1:c.1527G>A	XP_011516444.1:p.Leu509=
XM_011518143.1:c.1521G>A	XP_011516445.1:p.Leu507=
XM_011518145.1:c.1380G>A	XP_011516447.1:p.Leu460=
XM_011518147.1:c.708G>A	XP_011516449.1:p.Leu236=
XR_929703.1:n.2012G>A
NM_001353193.1:c.1836G>A	NP_001340122.1:p.Leu612=
NM_001353194.1:c.1608G>A	NP_001340123.1:p.Leu536=
NM_001353195.1:c.1419G>A	NP_001340124.1:p.Leu473=
NM_001353196.1:c.1680G>A	NP_001340125.1:p.Leu560=
NM_001353197.1:c.1674G>A	NP_001340126.1:p.Leu558=
NM_001353198.1:c.1674G>A	NP_001340127.1:p.Leu558=
NM_001353199.1:c.1485G>A	NP_001340128.1:p.Leu495=
NM_001353200.1:c.1314G>A	NP_001340129.1:p.Leu438=
NR_148391.1:n.1820G>A
NR_148392.1:n.2038G>A
NR_148393.1:n.1959G>A
NR_148394.1:n.1713G>A
NR_148395.1:n.2111G>A
NR_148396.1:n.1745G>A
NR_148397.1:n.1870G>A
NR_148398.1:n.1825G>A
NR_148399.1:n.2351G>A
NR_148400.1:n.1950G>A
XM_005272162.3:c.639G>A	XP_005272219.1:p.Leu213=
XM_006716932.2:c.1485G>A	XP_006716995.1:p.Leu495=
XM_011518140.2:c.1689G>A	XP_011516442.1:p.Leu563=
XM_011518141.2:c.1623G>A	XP_011516443.1:p.Leu541=
XM_011518142.2:c.1527G>A	XP_011516444.1:p.Leu509=
XM_011518143.2:c.1521G>A	XP_011516445.1:p.Leu507=
XM_011518145.2:c.1380G>A	XP_011516447.1:p.Leu460=
XM_017014205.2:c.639G>A	XP_016869694.1:p.Leu213=
XM_024447380.1:c.639G>A	XP_024303148.1:p.Leu213=
XM_024447381.1:c.945G>A	XP_024303149.1:p.Leu315=
XM_024447382.1:c.639G>A	XP_024303150.1:p.Leu213=
XR_001746160.2:n.1940G>A
XR_001746162.2:n.2145G>A
XR_001746164.1:n.1862G>A
XR_001746166.2:n.2157G>A
NM_001077365.2:c.1770G>A MANE Select	NP_001070833.1:p.Leu590=
NM_001077366.2:c.1608G>A	NP_001070834.1:p.Leu536=
NM_001136113.2:c.1770G>A	NP_001129585.1:p.Leu590=
NM_001136114.2:c.1419G>A	NP_001129586.1:p.Leu473=
NM_001353193.2:c.1836G>A	NP_001340122.2:p.Leu612=
NM_001353194.2:c.1608G>A	NP_001340123.1:p.Leu536=
NM_001353195.2:c.1419G>A	NP_001340124.1:p.Leu473=
NM_001353196.2:c.1680G>A	NP_001340125.1:p.Leu560=
NM_001353197.2:c.1674G>A	NP_001340126.2:p.Leu558=
NM_001353198.2:c.1674G>A	NP_001340127.2:p.Leu558=
NM_001353199.2:c.1485G>A	NP_001340128.2:p.Leu495=
NM_001353200.2:c.1314G>A	NP_001340129.1:p.Leu438=
NM_001374689.1:c.1758G>A	NP_001361618.1:p.Leu586=
NM_001374690.1:c.1551G>A	NP_001361619.1:p.Leu517=
NM_001374691.1:c.1419G>A	NP_001361620.1:p.Leu473=
NM_001374692.1:c.1419G>A	NP_001361621.1:p.Leu473=
NM_001374693.1:c.1419G>A	NP_001361622.1:p.Leu473=
NM_001374695.1:c.1380G>A	NP_001361624.1:p.Leu460=
NM_007171.4:c.1836G>A	NP_009102.4:p.Leu612=
NR_148391.2:n.1804G>A
NR_148392.2:n.2022G>A
NR_148393.2:n.1943G>A
NR_148394.2:n.1697G>A
NR_148395.2:n.2095G>A
NR_148396.2:n.1729G>A
NR_148397.2:n.1854G>A
NR_148398.2:n.1809G>A
NR_148399.2:n.2335G>A
NR_148400.2:n.1934G>A