Canonical Allele Identifier: CA375794410

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707938G>T (hg19) ; chr9:g.137813486G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813486G>T , CM000671.2:g.137813486G>T	GRCh38
NC_000009.11:g.140707938G>T , CM000671.1:g.140707938G>T	GRCh37
NC_000009.10:g.139827759G>T	NCBI36
NG_011776.1:g.199495G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3136G>T MANE Select	ENSP00000417980.1:p.Val1046Leu
ENST00000637161.1:c.3043G>T	ENSP00000490328.1:p.Val1015Leu
ENST00000637261.1:c.3176G>T	ENSP00000490815.1:n.3176G>T
ENST00000637891.1:c.1030G>T	ENSP00000490907.1:p.Val344Leu
ENST00000460843.5:c.3136G>T	ENSP00000417980.1:p.Val1046Leu
ENST00000462942.3:c.1993G>T	ENSP00000436107.1:p.Val665Leu
ENST00000488242.2:n.662G>T
NM_024757.4:c.3136G>T	NP_079033.4:p.Val1046Leu
XM_005266105.3:c.3127G>T	XP_005266162.1:p.Val1043Leu
XM_005266110.1:c.3043G>T	XP_005266167.1:p.Val1015Leu
XM_006717288.2:c.3118G>T	XP_006717351.1:p.Val1040Leu
XM_011519021.1:c.3145G>T	XP_011517323.1:p.Val1049Leu
XM_011519022.1:c.3142G>T	XP_011517324.1:p.Val1048Leu
XM_011519023.1:c.3124G>T	XP_011517325.1:p.Val1042Leu
XM_011519024.1:c.3067G>T	XP_011517326.1:p.Val1023Leu
XM_011519025.1:c.3043G>T	XP_011517327.1:p.Val1015Leu
XM_011519026.1:c.3001G>T	XP_011517328.1:p.Val1001Leu
XM_011519029.1:c.1567G>T	XP_011517331.1:p.Val523Leu
XM_011519030.1:c.919G>T	XP_011517332.1:p.Val307Leu
XM_011519031.1:c.706G>T	XP_011517333.1:p.Val236Leu
XM_011519032.1:c.706G>T	XP_011517334.1:p.Val236Leu
XM_011519033.1:c.2980G>T	XP_011517335.1:p.Val994Leu
NM_001354263.1:c.3115G>T	NP_001341192.1:p.Val1039Leu
XM_005266105.5:c.3127G>T	XP_005266162.1:p.Val1043Leu
XM_011519021.3:c.3145G>T	XP_011517323.1:p.Val1049Leu
XM_011519022.3:c.3142G>T	XP_011517324.1:p.Val1048Leu
XM_011519023.3:c.3124G>T	XP_011517325.1:p.Val1042Leu
XM_011519029.3:c.1567G>T	XP_011517331.1:p.Val523Leu
XM_011519030.3:c.919G>T	XP_011517332.1:p.Val307Leu
XM_017015134.1:c.3121G>T	XP_016870623.1:p.Val1041Leu
XM_017015136.2:c.3037G>T	XP_016870625.1:p.Val1013Leu
XM_017015137.1:c.3022G>T	XP_016870626.1:p.Val1008Leu
XM_017015138.1:c.3022G>T	XP_016870627.1:p.Val1008Leu
XM_024447674.1:c.2965G>T	XP_024303442.1:p.Val989Leu
XM_024447675.1:c.2899G>T	XP_024303443.1:p.Val967Leu
XM_024447676.1:c.2260G>T	XP_024303444.1:p.Val754Leu
XM_024447677.1:c.2260G>T	XP_024303445.1:p.Val754Leu
XM_024447680.1:c.2878G>T	XP_024303448.1:p.Val960Leu
NM_024757.5:c.3136G>T MANE Select	NP_079033.4:p.Val1046Leu
NM_001354263.2:c.3115G>T	NP_001341192.1:p.Val1039Leu