Canonical Allele Identifier: CA375314410

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397516G>C (hg19) ; chr9:g.131522129G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1746G>C	ENSP00000343034.7:p.Glu582Asp
ENST00000404875.7:n.2448G>C
ENST00000423007.6:c.1965G>C	ENSP00000404119.2:p.Glu655Asp
ENST00000677295.2:c.*2252G>C	ENSP00000504346.2:n.*2252G>C
ENST00000678264.2:c.*2091G>C	ENSP00000503157.2:n.*2091G>C
ENST00000682070.1:n.2291-73G>C
ENST00000682813.1:n.2312G>C
ENST00000683392.1:n.4573-73G>C
ENST00000683712.1:n.2313G>C
ENST00000683900.1:n.3808G>C
ENST00000684062.1:n.2574G>C
ENST00000684579.1:n.3754G>C
ENST00000684679.1:n.1135G>C
ENST00000341012.12:c.1746G>C	ENSP00000343034.7:p.Glu582Asp
ENST00000372220.5:c.777G>C	ENSP00000361294.5:p.Glu259Asp
ENST00000372228.9:c.1974G>C	ENSP00000361302.3:p.Glu658Asp
ENST00000402686.8:c.1908G>C MANE Select	ENSP00000385797.4:p.Glu636Asp
ENST00000676640.1:c.1908G>C	ENSP00000503281.1:p.Glu636Asp
ENST00000676803.1:c.969G>C	ENSP00000503093.1:p.Glu323Asp
ENST00000676835.1:c.*1123G>C	ENSP00000502911.1:n.*1123G>C
ENST00000677029.1:c.1452G>C	ENSP00000502936.1:p.Glu484Asp
ENST00000677099.1:c.*1618G>C	ENSP00000504553.1:n.*1618G>C
ENST00000677216.1:c.1557G>C	ENSP00000503772.1:p.Glu519Asp
ENST00000677221.1:n.933G>C
ENST00000677295.1:c.*1203-73G>C	ENSP00000504346.1:n.*1203-73G>C
ENST00000677444.1:c.1853G>C
ENST00000677586.1:n.1275G>C
ENST00000677626.1:c.1557G>C	ENSP00000503552.1:p.Glu519Asp
ENST00000677853.1:c.*916G>C	ENSP00000503488.1:n.*916G>C
ENST00000678202.1:n.1067G>C
ENST00000678264.1:c.*1285G>C	ENSP00000503157.1:n.*1285G>C
ENST00000678303.1:c.1818G>C	ENSP00000503696.1:p.Glu606Asp
ENST00000678366.1:c.*2157G>C	ENSP00000504353.1:n.*2157G>C
ENST00000678546.1:c.*1853G>C	ENSP00000503062.1:n.*1853G>C
ENST00000678548.1:c.*2047G>C	ENSP00000503934.1:n.*2047G>C
ENST00000678626.1:n.1744G>C
ENST00000678739.1:c.*2147-73G>C	ENSP00000503806.1:n.*2147-73G>C
ENST00000678833.1:c.*1660G>C	ENSP00000503893.1:n.*1660G>C
ENST00000679023.1:c.1746G>C	ENSP00000503718.1:p.Glu582Asp
ENST00000679076.1:c.1527G>C
ENST00000679111.1:c.*664G>C	ENSP00000504257.1:n.*664G>C
ENST00000679189.1:c.1557G>C	ENSP00000503356.1:p.Glu519Asp
ENST00000341012.11:c.1746G>C	ENSP00000343034.7:p.Glu582Asp
ENST00000372220.4:c.771G>C	ENSP00000361294.4:p.Glu257Asp
ENST00000372228.7:c.1974G>C	ENSP00000361302.3:p.Glu658Asp
ENST00000402686.7:c.1908G>C	ENSP00000385797.3:p.Glu636Asp
ENST00000404875.6:c.1557G>C	ENSP00000384531.2:p.Glu519Asp
ENST00000423007.5:c.1908G>C	ENSP00000404119.1:p.Glu636Asp
ENST00000485278.5:n.2458G>C
ENST00000494883.1:n.451G>C
NM_001077365.1:c.1908G>C	NP_001070833.1:p.Glu636Asp
NM_001077366.1:c.1746G>C	NP_001070834.1:p.Glu582Asp
NM_001136113.1:c.1908G>C	NP_001129585.1:p.Glu636Asp
NM_001136114.1:c.1557G>C	NP_001129586.1:p.Glu519Asp
NM_007171.3:c.1974G>C	NP_009102.3:p.Glu658Asp
XM_005272156.1:c.1974G>C	XP_005272213.1:p.Glu658Asp
XM_005272158.1:c.1812G>C	XP_005272215.1:p.Glu604Asp
XM_005272159.1:c.1623G>C	XP_005272216.1:p.Glu541Asp
XM_005272162.1:c.777G>C	XP_005272219.1:p.Glu259Asp
XM_006716932.1:c.1623G>C	XP_006716995.1:p.Glu541Asp
XM_011518140.1:c.1827G>C	XP_011516442.1:p.Glu609Asp
XM_011518141.1:c.1761G>C	XP_011516443.1:p.Glu587Asp
XM_011518142.1:c.1665G>C	XP_011516444.1:p.Glu555Asp
XM_011518143.1:c.1659G>C	XP_011516445.1:p.Glu553Asp
XM_011518145.1:c.1518G>C	XP_011516447.1:p.Glu506Asp
XM_011518147.1:c.846G>C	XP_011516449.1:p.Glu282Asp
XR_929703.1:n.2150G>C
NM_001353193.1:c.1974G>C	NP_001340122.1:p.Glu658Asp
NM_001353194.1:c.1746G>C	NP_001340123.1:p.Glu582Asp
NM_001353195.1:c.1557G>C	NP_001340124.1:p.Glu519Asp
NM_001353196.1:c.1818G>C	NP_001340125.1:p.Glu606Asp
NM_001353197.1:c.1812G>C	NP_001340126.1:p.Glu604Asp
NM_001353198.1:c.1812G>C	NP_001340127.1:p.Glu604Asp
NM_001353199.1:c.1623G>C	NP_001340128.1:p.Glu541Asp
NM_001353200.1:c.1452G>C	NP_001340129.1:p.Glu484Asp
NR_148391.1:n.1958G>C
NR_148392.1:n.2176G>C
NR_148393.1:n.2097G>C
NR_148394.1:n.1851G>C
NR_148395.1:n.2249G>C
NR_148396.1:n.1883G>C
NR_148397.1:n.2008G>C
NR_148398.1:n.1963G>C
NR_148399.1:n.2489G>C
NR_148400.1:n.2088G>C
XM_005272162.3:c.777G>C	XP_005272219.1:p.Glu259Asp
XM_006716932.2:c.1623G>C	XP_006716995.1:p.Glu541Asp
XM_011518140.2:c.1827G>C	XP_011516442.1:p.Glu609Asp
XM_011518141.2:c.1761G>C	XP_011516443.1:p.Glu587Asp
XM_011518142.2:c.1665G>C	XP_011516444.1:p.Glu555Asp
XM_011518143.2:c.1659G>C	XP_011516445.1:p.Glu553Asp
XM_011518145.2:c.1518G>C	XP_011516447.1:p.Glu506Asp
XM_017014205.2:c.777G>C	XP_016869694.1:p.Glu259Asp
XM_024447380.1:c.777G>C	XP_024303148.1:p.Glu259Asp
XM_024447381.1:c.1083G>C	XP_024303149.1:p.Glu361Asp
XM_024447382.1:c.777G>C	XP_024303150.1:p.Glu259Asp
XR_001746160.2:n.2078G>C
XR_001746162.2:n.2283G>C
XR_001746164.1:n.2000G>C
XR_001746166.2:n.2295G>C
NM_001077365.2:c.1908G>C MANE Select	NP_001070833.1:p.Glu636Asp
NM_001077366.2:c.1746G>C	NP_001070834.1:p.Glu582Asp
NM_001136113.2:c.1908G>C	NP_001129585.1:p.Glu636Asp
NM_001136114.2:c.1557G>C	NP_001129586.1:p.Glu519Asp
NM_001353193.2:c.1974G>C	NP_001340122.2:p.Glu658Asp
NM_001353194.2:c.1746G>C	NP_001340123.1:p.Glu582Asp
NM_001353195.2:c.1557G>C	NP_001340124.1:p.Glu519Asp
NM_001353196.2:c.1818G>C	NP_001340125.1:p.Glu606Asp
NM_001353197.2:c.1812G>C	NP_001340126.2:p.Glu604Asp
NM_001353198.2:c.1812G>C	NP_001340127.2:p.Glu604Asp
NM_001353199.2:c.1623G>C	NP_001340128.2:p.Glu541Asp
NM_001353200.2:c.1452G>C	NP_001340129.1:p.Glu484Asp
NM_001374689.1:c.1896G>C	NP_001361618.1:p.Glu632Asp
NM_001374690.1:c.1689G>C	NP_001361619.1:p.Glu563Asp
NM_001374691.1:c.1557G>C	NP_001361620.1:p.Glu519Asp
NM_001374692.1:c.1557G>C	NP_001361621.1:p.Glu519Asp
NM_001374693.1:c.1557G>C	NP_001361622.1:p.Glu519Asp
NM_001374695.1:c.1518G>C	NP_001361624.1:p.Glu506Asp
NM_007171.4:c.1974G>C	NP_009102.4:p.Glu658Asp
NR_148391.2:n.1942G>C
NR_148392.2:n.2160G>C
NR_148393.2:n.2081G>C
NR_148394.2:n.1835G>C
NR_148395.2:n.2233G>C
NR_148396.2:n.1867G>C
NR_148397.2:n.1992G>C
NR_148398.2:n.1947G>C
NR_148399.2:n.2473G>C
NR_148400.2:n.2072G>C