Canonical Allele Identifier: CA375781428
Community Standard Title: NM_024757.5(EHMT1):c.3595A>G (p.Ile1199Val)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137834403A>G , CM000671.2:g.137834403A>G GRCh38
NC_000009.11:g.140728855A>G , CM000671.1:g.140728855A>G GRCh37
NC_000009.10:g.139848676A>G NCBI36
NG_011776.1:g.220412A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3595A>G MANE Select NP_079033.4:p.Ile1199Val
ENST00000460843.6:c.3595A>G MANE Select ENSP00000417980.1:p.Ile1199Val
NM_001354263.1:c.3574A>G NP_001341192.1:p.Ile1192Val
NM_001354263.2:c.3574A>G NP_001341192.1:p.Ile1192Val
NM_024757.4:c.3595A>G NP_079033.4:p.Ile1199Val
ENST00000460843.5:c.3595A>G ENSP00000417980.1:p.Ile1199Val
ENST00000462942.3:c.2398-12157A>G ENSP00000436107.1:n.2398-12157A>G
ENST00000472849.1:n.367A>G
ENST00000475564.5:n.1319A>G
ENST00000475704.2:n.325A>G
ENST00000494249.5:n.948A>G
ENST00000637161.1:c.3502A>G ENSP00000490328.1:p.Ile1168Val
ENST00000637261.1:c.4169A>G ENSP00000490815.1:n.4169A>G
ENST00000637748.1:n.576A>G
ENST00000637891.1:c.1669A>G ENSP00000490907.1:n.1669A>G
XM_005266105.3:c.3586A>G XP_005266162.1:p.Ile1196Val
XM_005266105.5:c.3586A>G XP_005266162.1:p.Ile1196Val
XM_005266110.1:c.3502A>G XP_005266167.1:p.Ile1168Val
XM_006717288.2:c.3577A>G XP_006717351.1:p.Ile1193Val
XM_011519021.1:c.3604A>G XP_011517323.1:p.Ile1202Val
XM_011519021.3:c.3604A>G XP_011517323.1:p.Ile1202Val
XM_011519022.1:c.3601A>G XP_011517324.1:p.Ile1201Val
XM_011519022.3:c.3601A>G XP_011517324.1:p.Ile1201Val
XM_011519023.1:c.3583A>G XP_011517325.1:p.Ile1195Val
XM_011519023.3:c.3583A>G XP_011517325.1:p.Ile1195Val
XM_011519024.1:c.3526A>G XP_011517326.1:p.Ile1176Val
XM_011519025.1:c.3502A>G XP_011517327.1:p.Ile1168Val
XM_011519026.1:c.3460A>G XP_011517328.1:p.Ile1154Val
XM_011519029.1:c.2026A>G XP_011517331.1:p.Ile676Val
XM_011519029.3:c.2026A>G XP_011517331.1:p.Ile676Val
XM_011519030.1:c.1378A>G XP_011517332.1:p.Ile460Val
XM_011519030.3:c.1378A>G XP_011517332.1:p.Ile460Val
XM_011519031.1:c.1165A>G XP_011517333.1:p.Ile389Val
XM_011519032.1:c.1165A>G XP_011517334.1:p.Ile389Val
XM_011519033.1:c.3439A>G XP_011517335.1:p.Ile1147Val
XM_017015134.1:c.3580A>G XP_016870623.1:p.Ile1194Val
XM_017015136.2:c.3496A>G XP_016870625.1:p.Ile1166Val
XM_017015137.1:c.3481A>G XP_016870626.1:p.Ile1161Val
XM_017015138.1:c.3481A>G XP_016870627.1:p.Ile1161Val
XM_024447674.1:c.3424A>G XP_024303442.1:p.Ile1142Val
XM_024447675.1:c.3358A>G XP_024303443.1:p.Ile1120Val
XM_024447676.1:c.2719A>G XP_024303444.1:p.Ile907Val
XM_024447677.1:c.2719A>G XP_024303445.1:p.Ile907Val
XM_024447680.1:c.3337A>G XP_024303448.1:p.Ile1113Val