Canonical Allele Identifier: CA375314407

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397515A>T (hg19) ; chr9:g.131522128A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522128A>T , CM000671.2:g.131522128A>T	GRCh38
NC_000009.11:g.134397515A>T , CM000671.1:g.134397515A>T	GRCh37
NC_000009.10:g.133387336A>T	NCBI36
NG_008896.1:g.24227A>T
NG_008896.2:g.24227A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1745A>T	ENSP00000343034.7:p.Glu582Val
ENST00000404875.7:n.2447A>T
ENST00000423007.6:c.1964A>T	ENSP00000404119.2:p.Glu655Val
ENST00000677295.2:c.*2251A>T	ENSP00000504346.2:n.*2251A>T
ENST00000678264.2:c.*2090A>T	ENSP00000503157.2:n.*2090A>T
ENST00000682070.1:n.2291-74A>T
ENST00000682813.1:n.2311A>T
ENST00000683392.1:n.4573-74A>T
ENST00000683712.1:n.2312A>T
ENST00000683900.1:n.3807A>T
ENST00000684062.1:n.2573A>T
ENST00000684579.1:n.3753A>T
ENST00000684679.1:n.1134A>T
ENST00000341012.12:c.1745A>T	ENSP00000343034.7:p.Glu582Val
ENST00000372220.5:c.776A>T	ENSP00000361294.5:p.Glu259Val
ENST00000372228.9:c.1973A>T	ENSP00000361302.3:p.Glu658Val
ENST00000402686.8:c.1907A>T MANE Select	ENSP00000385797.4:p.Glu636Val
ENST00000676640.1:c.1907A>T	ENSP00000503281.1:p.Glu636Val
ENST00000676803.1:c.968A>T	ENSP00000503093.1:p.Glu323Val
ENST00000676835.1:c.*1122A>T	ENSP00000502911.1:n.*1122A>T
ENST00000677029.1:c.1451A>T	ENSP00000502936.1:p.Glu484Val
ENST00000677099.1:c.*1617A>T	ENSP00000504553.1:n.*1617A>T
ENST00000677216.1:c.1556A>T	ENSP00000503772.1:p.Glu519Val
ENST00000677221.1:n.932A>T
ENST00000677295.1:c.*1203-74A>T	ENSP00000504346.1:n.*1203-74A>T
ENST00000677444.1:c.1852A>T
ENST00000677586.1:n.1274A>T
ENST00000677626.1:c.1556A>T	ENSP00000503552.1:p.Glu519Val
ENST00000677853.1:c.*915A>T	ENSP00000503488.1:n.*915A>T
ENST00000678202.1:n.1066A>T
ENST00000678264.1:c.*1284A>T	ENSP00000503157.1:n.*1284A>T
ENST00000678303.1:c.1817A>T	ENSP00000503696.1:p.Glu606Val
ENST00000678366.1:c.*2156A>T	ENSP00000504353.1:n.*2156A>T
ENST00000678546.1:c.*1852A>T	ENSP00000503062.1:n.*1852A>T
ENST00000678548.1:c.*2046A>T	ENSP00000503934.1:n.*2046A>T
ENST00000678626.1:n.1743A>T
ENST00000678739.1:c.*2147-74A>T	ENSP00000503806.1:n.*2147-74A>T
ENST00000678833.1:c.*1659A>T	ENSP00000503893.1:n.*1659A>T
ENST00000679023.1:c.1745A>T	ENSP00000503718.1:p.Glu582Val
ENST00000679076.1:c.1526A>T
ENST00000679111.1:c.*663A>T	ENSP00000504257.1:n.*663A>T
ENST00000679189.1:c.1556A>T	ENSP00000503356.1:p.Glu519Val
ENST00000341012.11:c.1745A>T	ENSP00000343034.7:p.Glu582Val
ENST00000372220.4:c.770A>T	ENSP00000361294.4:p.Glu257Val
ENST00000372228.7:c.1973A>T	ENSP00000361302.3:p.Glu658Val
ENST00000402686.7:c.1907A>T	ENSP00000385797.3:p.Glu636Val
ENST00000404875.6:c.1556A>T	ENSP00000384531.2:p.Glu519Val
ENST00000423007.5:c.1907A>T	ENSP00000404119.1:p.Glu636Val
ENST00000485278.5:n.2457A>T
ENST00000494883.1:n.450A>T
NM_001077365.1:c.1907A>T	NP_001070833.1:p.Glu636Val
NM_001077366.1:c.1745A>T	NP_001070834.1:p.Glu582Val
NM_001136113.1:c.1907A>T	NP_001129585.1:p.Glu636Val
NM_001136114.1:c.1556A>T	NP_001129586.1:p.Glu519Val
NM_007171.3:c.1973A>T	NP_009102.3:p.Glu658Val
XM_005272156.1:c.1973A>T	XP_005272213.1:p.Glu658Val
XM_005272158.1:c.1811A>T	XP_005272215.1:p.Glu604Val
XM_005272159.1:c.1622A>T	XP_005272216.1:p.Glu541Val
XM_005272162.1:c.776A>T	XP_005272219.1:p.Glu259Val
XM_006716932.1:c.1622A>T	XP_006716995.1:p.Glu541Val
XM_011518140.1:c.1826A>T	XP_011516442.1:p.Glu609Val
XM_011518141.1:c.1760A>T	XP_011516443.1:p.Glu587Val
XM_011518142.1:c.1664A>T	XP_011516444.1:p.Glu555Val
XM_011518143.1:c.1658A>T	XP_011516445.1:p.Glu553Val
XM_011518145.1:c.1517A>T	XP_011516447.1:p.Glu506Val
XM_011518147.1:c.845A>T	XP_011516449.1:p.Glu282Val
XR_929703.1:n.2149A>T
NM_001353193.1:c.1973A>T	NP_001340122.1:p.Glu658Val
NM_001353194.1:c.1745A>T	NP_001340123.1:p.Glu582Val
NM_001353195.1:c.1556A>T	NP_001340124.1:p.Glu519Val
NM_001353196.1:c.1817A>T	NP_001340125.1:p.Glu606Val
NM_001353197.1:c.1811A>T	NP_001340126.1:p.Glu604Val
NM_001353198.1:c.1811A>T	NP_001340127.1:p.Glu604Val
NM_001353199.1:c.1622A>T	NP_001340128.1:p.Glu541Val
NM_001353200.1:c.1451A>T	NP_001340129.1:p.Glu484Val
NR_148391.1:n.1957A>T
NR_148392.1:n.2175A>T
NR_148393.1:n.2096A>T
NR_148394.1:n.1850A>T
NR_148395.1:n.2248A>T
NR_148396.1:n.1882A>T
NR_148397.1:n.2007A>T
NR_148398.1:n.1962A>T
NR_148399.1:n.2488A>T
NR_148400.1:n.2087A>T
XM_005272162.3:c.776A>T	XP_005272219.1:p.Glu259Val
XM_006716932.2:c.1622A>T	XP_006716995.1:p.Glu541Val
XM_011518140.2:c.1826A>T	XP_011516442.1:p.Glu609Val
XM_011518141.2:c.1760A>T	XP_011516443.1:p.Glu587Val
XM_011518142.2:c.1664A>T	XP_011516444.1:p.Glu555Val
XM_011518143.2:c.1658A>T	XP_011516445.1:p.Glu553Val
XM_011518145.2:c.1517A>T	XP_011516447.1:p.Glu506Val
XM_017014205.2:c.776A>T	XP_016869694.1:p.Glu259Val
XM_024447380.1:c.776A>T	XP_024303148.1:p.Glu259Val
XM_024447381.1:c.1082A>T	XP_024303149.1:p.Glu361Val
XM_024447382.1:c.776A>T	XP_024303150.1:p.Glu259Val
XR_001746160.2:n.2077A>T
XR_001746162.2:n.2282A>T
XR_001746164.1:n.1999A>T
XR_001746166.2:n.2294A>T
NM_001077365.2:c.1907A>T MANE Select	NP_001070833.1:p.Glu636Val
NM_001077366.2:c.1745A>T	NP_001070834.1:p.Glu582Val
NM_001136113.2:c.1907A>T	NP_001129585.1:p.Glu636Val
NM_001136114.2:c.1556A>T	NP_001129586.1:p.Glu519Val
NM_001353193.2:c.1973A>T	NP_001340122.2:p.Glu658Val
NM_001353194.2:c.1745A>T	NP_001340123.1:p.Glu582Val
NM_001353195.2:c.1556A>T	NP_001340124.1:p.Glu519Val
NM_001353196.2:c.1817A>T	NP_001340125.1:p.Glu606Val
NM_001353197.2:c.1811A>T	NP_001340126.2:p.Glu604Val
NM_001353198.2:c.1811A>T	NP_001340127.2:p.Glu604Val
NM_001353199.2:c.1622A>T	NP_001340128.2:p.Glu541Val
NM_001353200.2:c.1451A>T	NP_001340129.1:p.Glu484Val
NM_001374689.1:c.1895A>T	NP_001361618.1:p.Glu632Val
NM_001374690.1:c.1688A>T	NP_001361619.1:p.Glu563Val
NM_001374691.1:c.1556A>T	NP_001361620.1:p.Glu519Val
NM_001374692.1:c.1556A>T	NP_001361621.1:p.Glu519Val
NM_001374693.1:c.1556A>T	NP_001361622.1:p.Glu519Val
NM_001374695.1:c.1517A>T	NP_001361624.1:p.Glu506Val
NM_007171.4:c.1973A>T	NP_009102.4:p.Glu658Val
NR_148391.2:n.1941A>T
NR_148392.2:n.2159A>T
NR_148393.2:n.2080A>T
NR_148394.2:n.1834A>T
NR_148395.2:n.2232A>T
NR_148396.2:n.1866A>T
NR_148397.2:n.1991A>T
NR_148398.2:n.1946A>T
NR_148399.2:n.2472A>T
NR_148400.2:n.2071A>T