Canonical Allele Identifier: CA467424056

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397516G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522129G>A , CM000671.2:g.131522129G>A	GRCh38
NC_000009.11:g.134397516G>A , CM000671.1:g.134397516G>A	GRCh37
NC_000009.10:g.133387337G>A	NCBI36
NG_008896.1:g.24228G>A
NG_008896.2:g.24228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1746G>A	ENSP00000343034.7:p.Glu582=
ENST00000404875.7:n.2448G>A
ENST00000423007.6:c.1965G>A	ENSP00000404119.2:p.Glu655=
ENST00000677295.2:c.*2252G>A	ENSP00000504346.2:n.*2252G>A
ENST00000678264.2:c.*2091G>A	ENSP00000503157.2:n.*2091G>A
ENST00000682070.1:n.2291-73G>A
ENST00000682813.1:n.2312G>A
ENST00000683392.1:n.4573-73G>A
ENST00000683712.1:n.2313G>A
ENST00000683900.1:n.3808G>A
ENST00000684062.1:n.2574G>A
ENST00000684579.1:n.3754G>A
ENST00000684679.1:n.1135G>A
ENST00000341012.12:c.1746G>A	ENSP00000343034.7:p.Glu582=
ENST00000372220.5:c.777G>A	ENSP00000361294.5:p.Glu259=
ENST00000372228.9:c.1974G>A	ENSP00000361302.3:p.Glu658=
ENST00000402686.8:c.1908G>A MANE Select	ENSP00000385797.4:p.Glu636=
ENST00000676640.1:c.1908G>A	ENSP00000503281.1:p.Glu636=
ENST00000676803.1:c.969G>A	ENSP00000503093.1:p.Glu323=
ENST00000676835.1:c.*1123G>A	ENSP00000502911.1:n.*1123G>A
ENST00000677029.1:c.1452G>A	ENSP00000502936.1:p.Glu484=
ENST00000677099.1:c.*1618G>A	ENSP00000504553.1:n.*1618G>A
ENST00000677216.1:c.1557G>A	ENSP00000503772.1:p.Glu519=
ENST00000677221.1:n.933G>A
ENST00000677295.1:c.*1203-73G>A	ENSP00000504346.1:n.*1203-73G>A
ENST00000677444.1:c.1853G>A
ENST00000677586.1:n.1275G>A
ENST00000677626.1:c.1557G>A	ENSP00000503552.1:p.Glu519=
ENST00000677853.1:c.*916G>A	ENSP00000503488.1:n.*916G>A
ENST00000678202.1:n.1067G>A
ENST00000678264.1:c.*1285G>A	ENSP00000503157.1:n.*1285G>A
ENST00000678303.1:c.1818G>A	ENSP00000503696.1:p.Glu606=
ENST00000678366.1:c.*2157G>A	ENSP00000504353.1:n.*2157G>A
ENST00000678546.1:c.*1853G>A	ENSP00000503062.1:n.*1853G>A
ENST00000678548.1:c.*2047G>A	ENSP00000503934.1:n.*2047G>A
ENST00000678626.1:n.1744G>A
ENST00000678739.1:c.*2147-73G>A	ENSP00000503806.1:n.*2147-73G>A
ENST00000678833.1:c.*1660G>A	ENSP00000503893.1:n.*1660G>A
ENST00000679023.1:c.1746G>A	ENSP00000503718.1:p.Glu582=
ENST00000679076.1:c.1527G>A
ENST00000679111.1:c.*664G>A	ENSP00000504257.1:n.*664G>A
ENST00000679189.1:c.1557G>A	ENSP00000503356.1:p.Glu519=
ENST00000341012.11:c.1746G>A	ENSP00000343034.7:p.Glu582=
ENST00000372220.4:c.771G>A	ENSP00000361294.4:p.Glu257=
ENST00000372228.7:c.1974G>A	ENSP00000361302.3:p.Glu658=
ENST00000402686.7:c.1908G>A	ENSP00000385797.3:p.Glu636=
ENST00000404875.6:c.1557G>A	ENSP00000384531.2:p.Glu519=
ENST00000423007.5:c.1908G>A	ENSP00000404119.1:p.Glu636=
ENST00000485278.5:n.2458G>A
ENST00000494883.1:n.451G>A
NM_001077365.1:c.1908G>A	NP_001070833.1:p.Glu636=
NM_001077366.1:c.1746G>A	NP_001070834.1:p.Glu582=
NM_001136113.1:c.1908G>A	NP_001129585.1:p.Glu636=
NM_001136114.1:c.1557G>A	NP_001129586.1:p.Glu519=
NM_007171.3:c.1974G>A	NP_009102.3:p.Glu658=
XM_005272156.1:c.1974G>A	XP_005272213.1:p.Glu658=
XM_005272158.1:c.1812G>A	XP_005272215.1:p.Glu604=
XM_005272159.1:c.1623G>A	XP_005272216.1:p.Glu541=
XM_005272162.1:c.777G>A	XP_005272219.1:p.Glu259=
XM_006716932.1:c.1623G>A	XP_006716995.1:p.Glu541=
XM_011518140.1:c.1827G>A	XP_011516442.1:p.Glu609=
XM_011518141.1:c.1761G>A	XP_011516443.1:p.Glu587=
XM_011518142.1:c.1665G>A	XP_011516444.1:p.Glu555=
XM_011518143.1:c.1659G>A	XP_011516445.1:p.Glu553=
XM_011518145.1:c.1518G>A	XP_011516447.1:p.Glu506=
XM_011518147.1:c.846G>A	XP_011516449.1:p.Glu282=
XR_929703.1:n.2150G>A
NM_001353193.1:c.1974G>A	NP_001340122.1:p.Glu658=
NM_001353194.1:c.1746G>A	NP_001340123.1:p.Glu582=
NM_001353195.1:c.1557G>A	NP_001340124.1:p.Glu519=
NM_001353196.1:c.1818G>A	NP_001340125.1:p.Glu606=
NM_001353197.1:c.1812G>A	NP_001340126.1:p.Glu604=
NM_001353198.1:c.1812G>A	NP_001340127.1:p.Glu604=
NM_001353199.1:c.1623G>A	NP_001340128.1:p.Glu541=
NM_001353200.1:c.1452G>A	NP_001340129.1:p.Glu484=
NR_148391.1:n.1958G>A
NR_148392.1:n.2176G>A
NR_148393.1:n.2097G>A
NR_148394.1:n.1851G>A
NR_148395.1:n.2249G>A
NR_148396.1:n.1883G>A
NR_148397.1:n.2008G>A
NR_148398.1:n.1963G>A
NR_148399.1:n.2489G>A
NR_148400.1:n.2088G>A
XM_005272162.3:c.777G>A	XP_005272219.1:p.Glu259=
XM_006716932.2:c.1623G>A	XP_006716995.1:p.Glu541=
XM_011518140.2:c.1827G>A	XP_011516442.1:p.Glu609=
XM_011518141.2:c.1761G>A	XP_011516443.1:p.Glu587=
XM_011518142.2:c.1665G>A	XP_011516444.1:p.Glu555=
XM_011518143.2:c.1659G>A	XP_011516445.1:p.Glu553=
XM_011518145.2:c.1518G>A	XP_011516447.1:p.Glu506=
XM_017014205.2:c.777G>A	XP_016869694.1:p.Glu259=
XM_024447380.1:c.777G>A	XP_024303148.1:p.Glu259=
XM_024447381.1:c.1083G>A	XP_024303149.1:p.Glu361=
XM_024447382.1:c.777G>A	XP_024303150.1:p.Glu259=
XR_001746160.2:n.2078G>A
XR_001746162.2:n.2283G>A
XR_001746164.1:n.2000G>A
XR_001746166.2:n.2295G>A
NM_001077365.2:c.1908G>A MANE Select	NP_001070833.1:p.Glu636=
NM_001077366.2:c.1746G>A	NP_001070834.1:p.Glu582=
NM_001136113.2:c.1908G>A	NP_001129585.1:p.Glu636=
NM_001136114.2:c.1557G>A	NP_001129586.1:p.Glu519=
NM_001353193.2:c.1974G>A	NP_001340122.2:p.Glu658=
NM_001353194.2:c.1746G>A	NP_001340123.1:p.Glu582=
NM_001353195.2:c.1557G>A	NP_001340124.1:p.Glu519=
NM_001353196.2:c.1818G>A	NP_001340125.1:p.Glu606=
NM_001353197.2:c.1812G>A	NP_001340126.2:p.Glu604=
NM_001353198.2:c.1812G>A	NP_001340127.2:p.Glu604=
NM_001353199.2:c.1623G>A	NP_001340128.2:p.Glu541=
NM_001353200.2:c.1452G>A	NP_001340129.1:p.Glu484=
NM_001374689.1:c.1896G>A	NP_001361618.1:p.Glu632=
NM_001374690.1:c.1689G>A	NP_001361619.1:p.Glu563=
NM_001374691.1:c.1557G>A	NP_001361620.1:p.Glu519=
NM_001374692.1:c.1557G>A	NP_001361621.1:p.Glu519=
NM_001374693.1:c.1557G>A	NP_001361622.1:p.Glu519=
NM_001374695.1:c.1518G>A	NP_001361624.1:p.Glu506=
NM_007171.4:c.1974G>A	NP_009102.4:p.Glu658=
NR_148391.2:n.1942G>A
NR_148392.2:n.2160G>A
NR_148393.2:n.2081G>A
NR_148394.2:n.1835G>A
NR_148395.2:n.2233G>A
NR_148396.2:n.1867G>A
NR_148397.2:n.1992G>A
NR_148398.2:n.1947G>A
NR_148399.2:n.2473G>A
NR_148400.2:n.2072G>A