Canonical Allele Identifier: CA231085

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 128978
• ClinVar RCV Id: RCV000116960 ; RCV002528212
• dbSNP Id: rs587780332
• COSMIC: COSM753013 ; COSM1151254
• MyVariant Identifiers: chr9:g.140685343C>T (hg19) ; chr9:g.137790891C>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137790891C>T , CM000671.2:g.137790891C>T	GRCh38
NC_000009.11:g.140685343C>T , CM000671.1:g.140685343C>T	GRCh37
NC_000009.10:g.139805164C>T	NCBI36
NG_011776.1:g.176900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2426C>T MANE Select	ENSP00000417980.1:p.Pro809Leu
ENST00000636027.1:c.2312C>T	ENSP00000489961.1:p.Pro771Leu
ENST00000636565.1:n.8C>T
ENST00000637161.1:c.2333C>T	ENSP00000490328.1:p.Pro778Leu
ENST00000637261.1:c.2466C>T	ENSP00000490815.1:n.2466C>T
ENST00000637891.1:c.320C>T	ENSP00000490907.1:p.Pro107Leu
ENST00000637949.1:c.104C>T	ENSP00000489786.1:p.Pro35Leu
ENST00000371394.6:c.*2161C>T	ENSP00000485945.1:n.*2161C>T
ENST00000460843.5:c.2426C>T	ENSP00000417980.1:p.Pro809Leu
ENST00000462942.3:c.1283C>T	ENSP00000436107.1:p.Pro428Leu
ENST00000482340.5:c.-5C>T	ENSP00000486748.1:n.-5C>T
ENST00000486164.5:c.4C>T
ENST00000493484.5:c.-5C>T	ENSP00000486503.1:n.-5C>T
NM_024757.4:c.2426C>T	NP_079033.4:p.Pro809Leu
XM_005266105.3:c.2417C>T	XP_005266162.1:p.Pro806Leu
XM_005266110.1:c.2333C>T	XP_005266167.1:p.Pro778Leu
XM_006717288.2:c.2408C>T	XP_006717351.1:p.Pro803Leu
XM_011519021.1:c.2435C>T	XP_011517323.1:p.Pro812Leu
XM_011519022.1:c.2432C>T	XP_011517324.1:p.Pro811Leu
XM_011519023.1:c.2414C>T	XP_011517325.1:p.Pro805Leu
XM_011519024.1:c.2357C>T	XP_011517326.1:p.Pro786Leu
XM_011519025.1:c.2333C>T	XP_011517327.1:p.Pro778Leu
XM_011519026.1:c.2291C>T	XP_011517328.1:p.Pro764Leu
XM_011519027.1:c.2435C>T	XP_011517329.1:p.Pro812Leu
XM_011519029.1:c.857C>T	XP_011517331.1:p.Pro286Leu
XM_011519030.1:c.209C>T	XP_011517332.1:p.Pro70Leu
XM_011519031.1:c.-5C>T	XP_011517333.1:n.-5C>T
XM_011519032.1:c.-5C>T	XP_011517334.1:n.-5C>T
XM_011519033.1:c.2270C>T	XP_011517335.1:p.Pro757Leu
NM_001354259.1:c.2333C>T	NP_001341188.1:p.Pro778Leu
NM_001354263.1:c.2405C>T	NP_001341192.1:p.Pro802Leu
XM_005266105.5:c.2417C>T	XP_005266162.1:p.Pro806Leu
XM_011519021.3:c.2435C>T	XP_011517323.1:p.Pro812Leu
XM_011519022.3:c.2432C>T	XP_011517324.1:p.Pro811Leu
XM_011519023.3:c.2414C>T	XP_011517325.1:p.Pro805Leu
XM_011519029.3:c.857C>T	XP_011517331.1:p.Pro286Leu
XM_011519030.3:c.209C>T	XP_011517332.1:p.Pro70Leu
XM_017015134.1:c.2411C>T	XP_016870623.1:p.Pro804Leu
XM_017015136.2:c.2327C>T	XP_016870625.1:p.Pro776Leu
XM_017015137.1:c.2312C>T	XP_016870626.1:p.Pro771Leu
XM_017015138.1:c.2312C>T	XP_016870627.1:p.Pro771Leu
XM_024447674.1:c.2255C>T	XP_024303442.1:p.Pro752Leu
XM_024447675.1:c.2189C>T	XP_024303443.1:p.Pro730Leu
XM_024447676.1:c.1550C>T	XP_024303444.1:p.Pro517Leu
XM_024447677.1:c.1550C>T	XP_024303445.1:p.Pro517Leu
XM_024447678.1:c.2333C>T	XP_024303446.1:p.Pro778Leu
XM_024447680.1:c.2168C>T	XP_024303448.1:p.Pro723Leu
NM_024757.5:c.2426C>T MANE Select	NP_079033.4:p.Pro809Leu
NM_001354259.2:c.2333C>T	NP_001341188.1:p.Pro778Leu
NM_001354263.2:c.2405C>T	NP_001341192.1:p.Pro802Leu