Canonical Allele Identifier: CA375793288
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813038T>G , CM000671.2:g.137813038T>G GRCh38
NC_000009.11:g.140707490T>G , CM000671.1:g.140707490T>G GRCh37
NC_000009.10:g.139827311T>G NCBI36
NG_011776.1:g.199047T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.2900T>G MANE Select ENSP00000417980.1:p.Leu967Ter
ENST00000636027.1:c.2786T>G ENSP00000489961.1:p.Leu929Ter
ENST00000637161.1:c.2807T>G ENSP00000490328.1:p.Leu936Ter
ENST00000637261.1:c.2940T>G ENSP00000490815.1:n.2940T>G
ENST00000637891.1:c.794T>G ENSP00000490907.1:p.Leu265Ter
ENST00000460843.5:c.2900T>G ENSP00000417980.1:p.Leu967Ter
ENST00000462942.3:c.1757T>G ENSP00000436107.1:p.Leu586Ter
ENST00000486164.5:c.587T>G
ENST00000488242.2:n.426T>G
NM_024757.4:c.2900T>G NP_079033.4:p.Leu967Ter
XM_005266105.3:c.2891T>G XP_005266162.1:p.Leu964Ter
XM_005266110.1:c.2807T>G XP_005266167.1:p.Leu936Ter
XM_006717288.2:c.2882T>G XP_006717351.1:p.Leu961Ter
XM_011519021.1:c.2909T>G XP_011517323.1:p.Leu970Ter
XM_011519022.1:c.2906T>G XP_011517324.1:p.Leu969Ter
XM_011519023.1:c.2888T>G XP_011517325.1:p.Leu963Ter
XM_011519024.1:c.2831T>G XP_011517326.1:p.Leu944Ter
XM_011519025.1:c.2807T>G XP_011517327.1:p.Leu936Ter
XM_011519026.1:c.2765T>G XP_011517328.1:p.Leu922Ter
XM_011519029.1:c.1331T>G XP_011517331.1:p.Leu444Ter
XM_011519030.1:c.683T>G XP_011517332.1:p.Leu228Ter
XM_011519031.1:c.470T>G XP_011517333.1:p.Leu157Ter
XM_011519032.1:c.470T>G XP_011517334.1:p.Leu157Ter
XM_011519033.1:c.2744T>G XP_011517335.1:p.Leu915Ter
NM_001354263.1:c.2879T>G NP_001341192.1:p.Leu960Ter
XM_005266105.5:c.2891T>G XP_005266162.1:p.Leu964Ter
XM_011519021.3:c.2909T>G XP_011517323.1:p.Leu970Ter
XM_011519022.3:c.2906T>G XP_011517324.1:p.Leu969Ter
XM_011519023.3:c.2888T>G XP_011517325.1:p.Leu963Ter
XM_011519029.3:c.1331T>G XP_011517331.1:p.Leu444Ter
XM_011519030.3:c.683T>G XP_011517332.1:p.Leu228Ter
XM_017015134.1:c.2885T>G XP_016870623.1:p.Leu962Ter
XM_017015136.2:c.2801T>G XP_016870625.1:p.Leu934Ter
XM_017015137.1:c.2786T>G XP_016870626.1:p.Leu929Ter
XM_017015138.1:c.2786T>G XP_016870627.1:p.Leu929Ter
XM_024447674.1:c.2729T>G XP_024303442.1:p.Leu910Ter
XM_024447675.1:c.2663T>G XP_024303443.1:p.Leu888Ter
XM_024447676.1:c.2024T>G XP_024303444.1:p.Leu675Ter
XM_024447677.1:c.2024T>G XP_024303445.1:p.Leu675Ter
XM_024447680.1:c.2642T>G XP_024303448.1:p.Leu881Ter
NM_024757.5:c.2900T>G MANE Select NP_079033.4:p.Leu967Ter
NM_001354263.2:c.2879T>G NP_001341192.1:p.Leu960Ter