Canonical Allele Identifier: CA375314403

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397514G>T (hg19) ; chr9:g.131522127G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522127G>T , CM000671.2:g.131522127G>T	GRCh38
NC_000009.11:g.134397514G>T , CM000671.1:g.134397514G>T	GRCh37
NC_000009.10:g.133387335G>T	NCBI36
NG_008896.1:g.24226G>T
NG_008896.2:g.24226G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1744G>T	ENSP00000343034.7:p.Glu582Ter
ENST00000404875.7:n.2446G>T
ENST00000423007.6:c.1963G>T	ENSP00000404119.2:p.Glu655Ter
ENST00000677295.2:c.*2250G>T	ENSP00000504346.2:n.*2250G>T
ENST00000678264.2:c.*2089G>T	ENSP00000503157.2:n.*2089G>T
ENST00000682070.1:n.2291-75G>T
ENST00000682813.1:n.2310G>T
ENST00000683392.1:n.4573-75G>T
ENST00000683712.1:n.2311G>T
ENST00000683900.1:n.3806G>T
ENST00000684062.1:n.2572G>T
ENST00000684579.1:n.3752G>T
ENST00000684679.1:n.1133G>T
ENST00000341012.12:c.1744G>T	ENSP00000343034.7:p.Glu582Ter
ENST00000372220.5:c.775G>T	ENSP00000361294.5:p.Glu259Ter
ENST00000372228.9:c.1972G>T	ENSP00000361302.3:p.Glu658Ter
ENST00000402686.8:c.1906G>T MANE Select	ENSP00000385797.4:p.Glu636Ter
ENST00000676640.1:c.1906G>T	ENSP00000503281.1:p.Glu636Ter
ENST00000676803.1:c.967G>T	ENSP00000503093.1:p.Glu323Ter
ENST00000676835.1:c.*1121G>T	ENSP00000502911.1:n.*1121G>T
ENST00000677029.1:c.1450G>T	ENSP00000502936.1:p.Glu484Ter
ENST00000677099.1:c.*1616G>T	ENSP00000504553.1:n.*1616G>T
ENST00000677216.1:c.1555G>T	ENSP00000503772.1:p.Glu519Ter
ENST00000677221.1:n.931G>T
ENST00000677295.1:c.*1203-75G>T	ENSP00000504346.1:n.*1203-75G>T
ENST00000677444.1:c.1851G>T
ENST00000677586.1:n.1273G>T
ENST00000677626.1:c.1555G>T	ENSP00000503552.1:p.Glu519Ter
ENST00000677853.1:c.*914G>T	ENSP00000503488.1:n.*914G>T
ENST00000678202.1:n.1065G>T
ENST00000678264.1:c.*1283G>T	ENSP00000503157.1:n.*1283G>T
ENST00000678303.1:c.1816G>T	ENSP00000503696.1:p.Glu606Ter
ENST00000678366.1:c.*2155G>T	ENSP00000504353.1:n.*2155G>T
ENST00000678546.1:c.*1851G>T	ENSP00000503062.1:n.*1851G>T
ENST00000678548.1:c.*2045G>T	ENSP00000503934.1:n.*2045G>T
ENST00000678626.1:n.1742G>T
ENST00000678739.1:c.*2147-75G>T	ENSP00000503806.1:n.*2147-75G>T
ENST00000678833.1:c.*1658G>T	ENSP00000503893.1:n.*1658G>T
ENST00000679023.1:c.1744G>T	ENSP00000503718.1:p.Glu582Ter
ENST00000679076.1:c.1525G>T
ENST00000679111.1:c.*662G>T	ENSP00000504257.1:n.*662G>T
ENST00000679189.1:c.1555G>T	ENSP00000503356.1:p.Glu519Ter
ENST00000341012.11:c.1744G>T	ENSP00000343034.7:p.Glu582Ter
ENST00000372220.4:c.769G>T	ENSP00000361294.4:p.Glu257Ter
ENST00000372228.7:c.1972G>T	ENSP00000361302.3:p.Glu658Ter
ENST00000402686.7:c.1906G>T	ENSP00000385797.3:p.Glu636Ter
ENST00000404875.6:c.1555G>T	ENSP00000384531.2:p.Glu519Ter
ENST00000423007.5:c.1906G>T	ENSP00000404119.1:p.Glu636Ter
ENST00000485278.5:n.2456G>T
ENST00000494883.1:n.449G>T
NM_001077365.1:c.1906G>T	NP_001070833.1:p.Glu636Ter
NM_001077366.1:c.1744G>T	NP_001070834.1:p.Glu582Ter
NM_001136113.1:c.1906G>T	NP_001129585.1:p.Glu636Ter
NM_001136114.1:c.1555G>T	NP_001129586.1:p.Glu519Ter
NM_007171.3:c.1972G>T	NP_009102.3:p.Glu658Ter
XM_005272156.1:c.1972G>T	XP_005272213.1:p.Glu658Ter
XM_005272158.1:c.1810G>T	XP_005272215.1:p.Glu604Ter
XM_005272159.1:c.1621G>T	XP_005272216.1:p.Glu541Ter
XM_005272162.1:c.775G>T	XP_005272219.1:p.Glu259Ter
XM_006716932.1:c.1621G>T	XP_006716995.1:p.Glu541Ter
XM_011518140.1:c.1825G>T	XP_011516442.1:p.Glu609Ter
XM_011518141.1:c.1759G>T	XP_011516443.1:p.Glu587Ter
XM_011518142.1:c.1663G>T	XP_011516444.1:p.Glu555Ter
XM_011518143.1:c.1657G>T	XP_011516445.1:p.Glu553Ter
XM_011518145.1:c.1516G>T	XP_011516447.1:p.Glu506Ter
XM_011518147.1:c.844G>T	XP_011516449.1:p.Glu282Ter
XR_929703.1:n.2148G>T
NM_001353193.1:c.1972G>T	NP_001340122.1:p.Glu658Ter
NM_001353194.1:c.1744G>T	NP_001340123.1:p.Glu582Ter
NM_001353195.1:c.1555G>T	NP_001340124.1:p.Glu519Ter
NM_001353196.1:c.1816G>T	NP_001340125.1:p.Glu606Ter
NM_001353197.1:c.1810G>T	NP_001340126.1:p.Glu604Ter
NM_001353198.1:c.1810G>T	NP_001340127.1:p.Glu604Ter
NM_001353199.1:c.1621G>T	NP_001340128.1:p.Glu541Ter
NM_001353200.1:c.1450G>T	NP_001340129.1:p.Glu484Ter
NR_148391.1:n.1956G>T
NR_148392.1:n.2174G>T
NR_148393.1:n.2095G>T
NR_148394.1:n.1849G>T
NR_148395.1:n.2247G>T
NR_148396.1:n.1881G>T
NR_148397.1:n.2006G>T
NR_148398.1:n.1961G>T
NR_148399.1:n.2487G>T
NR_148400.1:n.2086G>T
XM_005272162.3:c.775G>T	XP_005272219.1:p.Glu259Ter
XM_006716932.2:c.1621G>T	XP_006716995.1:p.Glu541Ter
XM_011518140.2:c.1825G>T	XP_011516442.1:p.Glu609Ter
XM_011518141.2:c.1759G>T	XP_011516443.1:p.Glu587Ter
XM_011518142.2:c.1663G>T	XP_011516444.1:p.Glu555Ter
XM_011518143.2:c.1657G>T	XP_011516445.1:p.Glu553Ter
XM_011518145.2:c.1516G>T	XP_011516447.1:p.Glu506Ter
XM_017014205.2:c.775G>T	XP_016869694.1:p.Glu259Ter
XM_024447380.1:c.775G>T	XP_024303148.1:p.Glu259Ter
XM_024447381.1:c.1081G>T	XP_024303149.1:p.Glu361Ter
XM_024447382.1:c.775G>T	XP_024303150.1:p.Glu259Ter
XR_001746160.2:n.2076G>T
XR_001746162.2:n.2281G>T
XR_001746164.1:n.1998G>T
XR_001746166.2:n.2293G>T
NM_001077365.2:c.1906G>T MANE Select	NP_001070833.1:p.Glu636Ter
NM_001077366.2:c.1744G>T	NP_001070834.1:p.Glu582Ter
NM_001136113.2:c.1906G>T	NP_001129585.1:p.Glu636Ter
NM_001136114.2:c.1555G>T	NP_001129586.1:p.Glu519Ter
NM_001353193.2:c.1972G>T	NP_001340122.2:p.Glu658Ter
NM_001353194.2:c.1744G>T	NP_001340123.1:p.Glu582Ter
NM_001353195.2:c.1555G>T	NP_001340124.1:p.Glu519Ter
NM_001353196.2:c.1816G>T	NP_001340125.1:p.Glu606Ter
NM_001353197.2:c.1810G>T	NP_001340126.2:p.Glu604Ter
NM_001353198.2:c.1810G>T	NP_001340127.2:p.Glu604Ter
NM_001353199.2:c.1621G>T	NP_001340128.2:p.Glu541Ter
NM_001353200.2:c.1450G>T	NP_001340129.1:p.Glu484Ter
NM_001374689.1:c.1894G>T	NP_001361618.1:p.Glu632Ter
NM_001374690.1:c.1687G>T	NP_001361619.1:p.Glu563Ter
NM_001374691.1:c.1555G>T	NP_001361620.1:p.Glu519Ter
NM_001374692.1:c.1555G>T	NP_001361621.1:p.Glu519Ter
NM_001374693.1:c.1555G>T	NP_001361622.1:p.Glu519Ter
NM_001374695.1:c.1516G>T	NP_001361624.1:p.Glu506Ter
NM_007171.4:c.1972G>T	NP_009102.4:p.Glu658Ter
NR_148391.2:n.1940G>T
NR_148392.2:n.2158G>T
NR_148393.2:n.2079G>T
NR_148394.2:n.1833G>T
NR_148395.2:n.2231G>T
NR_148396.2:n.1865G>T
NR_148397.2:n.1990G>T
NR_148398.2:n.1945G>T
NR_148399.2:n.2471G>T
NR_148400.2:n.2070G>T