Canonical Allele Identifier: CA340102

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 3607
• ClinVar RCV Id: RCV000003791
• dbSNP Id: rs137852726
• MyVariant Identifiers: chr9:g.140708920G>A (hg19) ; chr9:g.137814468G>A (hg38)
• PubMed: PMID:19264732 ; PMID:20945554

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137814468G>A , CM000671.2:g.137814468G>A	GRCh38
NC_000009.11:g.140708920G>A , CM000671.1:g.140708920G>A	GRCh37
NC_000009.10:g.139828741G>A	NCBI36
NG_011776.1:g.200477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.3218G>A MANE Select	ENSP00000417980.1:p.Cys1073Tyr
ENST00000637161.1:c.3125G>A	ENSP00000490328.1:p.Cys1042Tyr
ENST00000637261.1:c.3258G>A	ENSP00000490815.1:n.3258G>A
ENST00000637407.1:n.9G>A
ENST00000637891.1:c.1292G>A	ENSP00000490907.1:n.1292G>A
ENST00000460843.5:c.3218G>A	ENSP00000417980.1:p.Cys1073Tyr
ENST00000462942.3:c.2075G>A	ENSP00000436107.1:p.Cys692Tyr
ENST00000483653.1:n.78G>A
ENST00000488242.2:n.744G>A
NM_024757.4:c.3218G>A	NP_079033.4:p.Cys1073Tyr
XM_005266105.3:c.3209G>A	XP_005266162.1:p.Cys1070Tyr
XM_005266110.1:c.3125G>A	XP_005266167.1:p.Cys1042Tyr
XM_006717288.2:c.3200G>A	XP_006717351.1:p.Cys1067Tyr
XM_011519021.1:c.3227G>A	XP_011517323.1:p.Cys1076Tyr
XM_011519022.1:c.3224G>A	XP_011517324.1:p.Cys1075Tyr
XM_011519023.1:c.3206G>A	XP_011517325.1:p.Cys1069Tyr
XM_011519024.1:c.3149G>A	XP_011517326.1:p.Cys1050Tyr
XM_011519025.1:c.3125G>A	XP_011517327.1:p.Cys1042Tyr
XM_011519026.1:c.3083G>A	XP_011517328.1:p.Cys1028Tyr
XM_011519029.1:c.1649G>A	XP_011517331.1:p.Cys550Tyr
XM_011519030.1:c.1001G>A	XP_011517332.1:p.Cys334Tyr
XM_011519031.1:c.788G>A	XP_011517333.1:p.Cys263Tyr
XM_011519032.1:c.788G>A	XP_011517334.1:p.Cys263Tyr
XM_011519033.1:c.3062G>A	XP_011517335.1:p.Cys1021Tyr
NM_001354263.1:c.3197G>A	NP_001341192.1:p.Cys1066Tyr
XM_005266105.5:c.3209G>A	XP_005266162.1:p.Cys1070Tyr
XM_011519021.3:c.3227G>A	XP_011517323.1:p.Cys1076Tyr
XM_011519022.3:c.3224G>A	XP_011517324.1:p.Cys1075Tyr
XM_011519023.3:c.3206G>A	XP_011517325.1:p.Cys1069Tyr
XM_011519029.3:c.1649G>A	XP_011517331.1:p.Cys550Tyr
XM_011519030.3:c.1001G>A	XP_011517332.1:p.Cys334Tyr
XM_017015134.1:c.3203G>A	XP_016870623.1:p.Cys1068Tyr
XM_017015136.2:c.3119G>A	XP_016870625.1:p.Cys1040Tyr
XM_017015137.1:c.3104G>A	XP_016870626.1:p.Cys1035Tyr
XM_017015138.1:c.3104G>A	XP_016870627.1:p.Cys1035Tyr
XM_024447674.1:c.3047G>A	XP_024303442.1:p.Cys1016Tyr
XM_024447675.1:c.2981G>A	XP_024303443.1:p.Cys994Tyr
XM_024447676.1:c.2342G>A	XP_024303444.1:p.Cys781Tyr
XM_024447677.1:c.2342G>A	XP_024303445.1:p.Cys781Tyr
XM_024447680.1:c.2960G>A	XP_024303448.1:p.Cys987Tyr
NM_024757.5:c.3218G>A MANE Select	NP_079033.4:p.Cys1073Tyr
NM_001354263.2:c.3197G>A	NP_001341192.1:p.Cys1066Tyr