Canonical Allele Identifier: CA375793167
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813008T>G , CM000671.2:g.137813008T>G GRCh38
NC_000009.11:g.140707460T>G , CM000671.1:g.140707460T>G GRCh37
NC_000009.10:g.139827281T>G NCBI36
NG_011776.1:g.199017T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.2870T>G MANE Select ENSP00000417980.1:p.Leu957Arg
ENST00000636027.1:c.2756T>G ENSP00000489961.1:p.Leu919Arg
ENST00000637161.1:c.2777T>G ENSP00000490328.1:p.Leu926Arg
ENST00000637261.1:c.2910T>G ENSP00000490815.1:n.2910T>G
ENST00000637891.1:c.764T>G ENSP00000490907.1:p.Leu255Arg
ENST00000460843.5:c.2870T>G ENSP00000417980.1:p.Leu957Arg
ENST00000462942.3:c.1727T>G ENSP00000436107.1:p.Leu576Arg
ENST00000486164.5:c.557T>G
ENST00000488242.2:n.396T>G
NM_024757.4:c.2870T>G NP_079033.4:p.Leu957Arg
XM_005266105.3:c.2861T>G XP_005266162.1:p.Leu954Arg
XM_005266110.1:c.2777T>G XP_005266167.1:p.Leu926Arg
XM_006717288.2:c.2852T>G XP_006717351.1:p.Leu951Arg
XM_011519021.1:c.2879T>G XP_011517323.1:p.Leu960Arg
XM_011519022.1:c.2876T>G XP_011517324.1:p.Leu959Arg
XM_011519023.1:c.2858T>G XP_011517325.1:p.Leu953Arg
XM_011519024.1:c.2801T>G XP_011517326.1:p.Leu934Arg
XM_011519025.1:c.2777T>G XP_011517327.1:p.Leu926Arg
XM_011519026.1:c.2735T>G XP_011517328.1:p.Leu912Arg
XM_011519029.1:c.1301T>G XP_011517331.1:p.Leu434Arg
XM_011519030.1:c.653T>G XP_011517332.1:p.Leu218Arg
XM_011519031.1:c.440T>G XP_011517333.1:p.Leu147Arg
XM_011519032.1:c.440T>G XP_011517334.1:p.Leu147Arg
XM_011519033.1:c.2714T>G XP_011517335.1:p.Leu905Arg
NM_001354263.1:c.2849T>G NP_001341192.1:p.Leu950Arg
XM_005266105.5:c.2861T>G XP_005266162.1:p.Leu954Arg
XM_011519021.3:c.2879T>G XP_011517323.1:p.Leu960Arg
XM_011519022.3:c.2876T>G XP_011517324.1:p.Leu959Arg
XM_011519023.3:c.2858T>G XP_011517325.1:p.Leu953Arg
XM_011519029.3:c.1301T>G XP_011517331.1:p.Leu434Arg
XM_011519030.3:c.653T>G XP_011517332.1:p.Leu218Arg
XM_017015134.1:c.2855T>G XP_016870623.1:p.Leu952Arg
XM_017015136.2:c.2771T>G XP_016870625.1:p.Leu924Arg
XM_017015137.1:c.2756T>G XP_016870626.1:p.Leu919Arg
XM_017015138.1:c.2756T>G XP_016870627.1:p.Leu919Arg
XM_024447674.1:c.2699T>G XP_024303442.1:p.Leu900Arg
XM_024447675.1:c.2633T>G XP_024303443.1:p.Leu878Arg
XM_024447676.1:c.1994T>G XP_024303444.1:p.Leu665Arg
XM_024447677.1:c.1994T>G XP_024303445.1:p.Leu665Arg
XM_024447680.1:c.2612T>G XP_024303448.1:p.Leu871Arg
NM_024757.5:c.2870T>G MANE Select NP_079033.4:p.Leu957Arg
NM_001354263.2:c.2849T>G NP_001341192.1:p.Leu950Arg