Canonical Allele Identifier: CA16605814
Gene: EHMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391571
ClinVar RCV Id: RCV000418911
dbSNP Id: rs1057524142

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137800894G>A , CM000671.2:g.137800894G>A GRCh38
NC_000009.11:g.140695346G>A , CM000671.1:g.140695346G>A GRCh37
NC_000009.10:g.139815167G>A NCBI36
NG_011776.1:g.186903G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000460843.6:c.2622G>A MANE Select ENSP00000417980.1:p.Trp874Ter
ENST00000636027.1:c.2508G>A ENSP00000489961.1:p.Trp836Ter
ENST00000637161.1:c.2529G>A ENSP00000490328.1:p.Trp843Ter
ENST00000637261.1:c.2662G>A ENSP00000490815.1:n.2662G>A
ENST00000637891.1:c.516G>A ENSP00000490907.1:p.Trp172Ter
ENST00000637949.1:c.300G>A ENSP00000489786.1:p.Trp100Ter
ENST00000460843.5:c.2622G>A ENSP00000417980.1:p.Trp874Ter
ENST00000462942.3:c.1479G>A ENSP00000436107.1:p.Trp493Ter
ENST00000482340.5:c.192G>A ENSP00000486748.1:p.Trp64Ter
ENST00000486164.5:c.200G>A
ENST00000488242.2:n.148G>A
ENST00000493484.5:c.192G>A ENSP00000486503.1:p.Trp64Ter
NM_024757.4:c.2622G>A NP_079033.4:p.Trp874Ter
XM_005266105.3:c.2613G>A XP_005266162.1:p.Trp871Ter
XM_005266110.1:c.2529G>A XP_005266167.1:p.Trp843Ter
XM_006717288.2:c.2604G>A XP_006717351.1:p.Trp868Ter
XM_011519021.1:c.2631G>A XP_011517323.1:p.Trp877Ter
XM_011519022.1:c.2628G>A XP_011517324.1:p.Trp876Ter
XM_011519023.1:c.2610G>A XP_011517325.1:p.Trp870Ter
XM_011519024.1:c.2553G>A XP_011517326.1:p.Trp851Ter
XM_011519025.1:c.2529G>A XP_011517327.1:p.Trp843Ter
XM_011519026.1:c.2487G>A XP_011517328.1:p.Trp829Ter
XM_011519027.1:c.2631G>A XP_011517329.1:p.Trp877Ter
XM_011519029.1:c.1053G>A XP_011517331.1:p.Trp351Ter
XM_011519030.1:c.405G>A XP_011517332.1:p.Trp135Ter
XM_011519031.1:c.192G>A XP_011517333.1:p.Trp64Ter
XM_011519032.1:c.192G>A XP_011517334.1:p.Trp64Ter
XM_011519033.1:c.2466G>A XP_011517335.1:p.Trp822Ter
NM_001354263.1:c.2601G>A NP_001341192.1:p.Trp867Ter
XM_005266105.5:c.2613G>A XP_005266162.1:p.Trp871Ter
XM_011519021.3:c.2631G>A XP_011517323.1:p.Trp877Ter
XM_011519022.3:c.2628G>A XP_011517324.1:p.Trp876Ter
XM_011519023.3:c.2610G>A XP_011517325.1:p.Trp870Ter
XM_011519029.3:c.1053G>A XP_011517331.1:p.Trp351Ter
XM_011519030.3:c.405G>A XP_011517332.1:p.Trp135Ter
XM_017015134.1:c.2607G>A XP_016870623.1:p.Trp869Ter
XM_017015136.2:c.2523G>A XP_016870625.1:p.Trp841Ter
XM_017015137.1:c.2508G>A XP_016870626.1:p.Trp836Ter
XM_017015138.1:c.2508G>A XP_016870627.1:p.Trp836Ter
XM_024447674.1:c.2451G>A XP_024303442.1:p.Trp817Ter
XM_024447675.1:c.2385G>A XP_024303443.1:p.Trp795Ter
XM_024447676.1:c.1746G>A XP_024303444.1:p.Trp582Ter
XM_024447677.1:c.1746G>A XP_024303445.1:p.Trp582Ter
XM_024447678.1:c.2529G>A XP_024303446.1:p.Trp843Ter
XM_024447680.1:c.2364G>A XP_024303448.1:p.Trp788Ter
NM_024757.5:c.2622G>A MANE Select NP_079033.4:p.Trp874Ter
NM_001354263.2:c.2601G>A NP_001341192.1:p.Trp867Ter