Canonical Allele Identifier: CA375782941
Community Standard Title: NM_024757.5(EHMT1):c.3752G>T (p.Gly1251Val)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137834808G>T , CM000671.2:g.137834808G>T GRCh38
NC_000009.11:g.140729260G>T , CM000671.1:g.140729260G>T GRCh37
NC_000009.10:g.139849081G>T NCBI36
NG_011776.1:g.220817G>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3752G>T MANE Select NP_079033.4:p.Gly1251Val
ENST00000460843.6:c.3752G>T MANE Select ENSP00000417980.1:p.Gly1251Val
NM_001354263.1:c.3731G>T NP_001341192.1:p.Gly1244Val
NM_001354263.2:c.3731G>T NP_001341192.1:p.Gly1244Val
NM_024757.4:c.3752G>T NP_079033.4:p.Gly1251Val
ENST00000460843.5:c.3752G>T ENSP00000417980.1:p.Gly1251Val
ENST00000462942.3:c.2398-11752G>T ENSP00000436107.1:n.2398-11752G>T
ENST00000472849.1:n.524G>T
ENST00000475564.5:n.1476G>T
ENST00000475704.2:n.482G>T
ENST00000494249.5:n.1105G>T
ENST00000637161.1:c.3659G>T ENSP00000490328.1:p.Gly1220Val
ENST00000637748.1:n.733G>T
ENST00000637891.1:c.1826G>T ENSP00000490907.1:n.1826G>T
XM_005266105.3:c.3743G>T XP_005266162.1:p.Gly1248Val
XM_005266105.5:c.3743G>T XP_005266162.1:p.Gly1248Val
XM_005266110.1:c.3659G>T XP_005266167.1:p.Gly1220Val
XM_006717288.2:c.3734G>T XP_006717351.1:p.Gly1245Val
XM_011519021.1:c.3761G>T XP_011517323.1:p.Gly1254Val
XM_011519021.3:c.3761G>T XP_011517323.1:p.Gly1254Val
XM_011519022.1:c.3758G>T XP_011517324.1:p.Gly1253Val
XM_011519022.3:c.3758G>T XP_011517324.1:p.Gly1253Val
XM_011519023.1:c.3740G>T XP_011517325.1:p.Gly1247Val
XM_011519023.3:c.3740G>T XP_011517325.1:p.Gly1247Val
XM_011519024.1:c.3683G>T XP_011517326.1:p.Gly1228Val
XM_011519025.1:c.3659G>T XP_011517327.1:p.Gly1220Val
XM_011519026.1:c.3617G>T XP_011517328.1:p.Gly1206Val
XM_011519029.1:c.2183G>T XP_011517331.1:p.Gly728Val
XM_011519029.3:c.2183G>T XP_011517331.1:p.Gly728Val
XM_011519030.1:c.1535G>T XP_011517332.1:p.Gly512Val
XM_011519030.3:c.1535G>T XP_011517332.1:p.Gly512Val
XM_011519031.1:c.1322G>T XP_011517333.1:p.Gly441Val
XM_011519032.1:c.1322G>T XP_011517334.1:p.Gly441Val
XM_011519033.1:c.3596G>T XP_011517335.1:p.Gly1199Val
XM_017015134.1:c.3737G>T XP_016870623.1:p.Gly1246Val
XM_017015136.2:c.3653G>T XP_016870625.1:p.Gly1218Val
XM_017015137.1:c.3638G>T XP_016870626.1:p.Gly1213Val
XM_017015138.1:c.3638G>T XP_016870627.1:p.Gly1213Val
XM_024447674.1:c.3581G>T XP_024303442.1:p.Gly1194Val
XM_024447675.1:c.3515G>T XP_024303443.1:p.Gly1172Val
XM_024447676.1:c.2876G>T XP_024303444.1:p.Gly959Val
XM_024447677.1:c.2876G>T XP_024303445.1:p.Gly959Val
XM_024447680.1:c.3494G>T XP_024303448.1:p.Gly1165Val