Canonical Allele Identifier: CA375789041

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140695425A>C (hg19) ; chr9:g.137800973A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800973A>C , CM000671.2:g.137800973A>C	GRCh38
NC_000009.11:g.140695425A>C , CM000671.1:g.140695425A>C	GRCh37
NC_000009.10:g.139815246A>C	NCBI36
NG_011776.1:g.186982A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2701A>C MANE Select	ENSP00000417980.1:p.Ile901Leu
ENST00000636027.1:c.2587A>C	ENSP00000489961.1:p.Ile863Leu
ENST00000637161.1:c.2608A>C	ENSP00000490328.1:p.Ile870Leu
ENST00000637261.1:c.2741A>C	ENSP00000490815.1:n.2741A>C
ENST00000637891.1:c.595A>C	ENSP00000490907.1:p.Ile199Leu
ENST00000637949.1:c.379A>C	ENSP00000489786.1:p.Ile127Leu
ENST00000460843.5:c.2701A>C	ENSP00000417980.1:p.Ile901Leu
ENST00000462942.3:c.1558A>C	ENSP00000436107.1:p.Ile520Leu
ENST00000482340.5:c.271A>C	ENSP00000486748.1:p.Ile91Leu
ENST00000486164.5:c.279A>C
ENST00000488242.2:n.227A>C
ENST00000493484.5:c.271A>C	ENSP00000486503.1:p.Ile91Leu
NM_024757.4:c.2701A>C	NP_079033.4:p.Ile901Leu
XM_005266105.3:c.2692A>C	XP_005266162.1:p.Ile898Leu
XM_005266110.1:c.2608A>C	XP_005266167.1:p.Ile870Leu
XM_006717288.2:c.2683A>C	XP_006717351.1:p.Ile895Leu
XM_011519021.1:c.2710A>C	XP_011517323.1:p.Ile904Leu
XM_011519022.1:c.2707A>C	XP_011517324.1:p.Ile903Leu
XM_011519023.1:c.2689A>C	XP_011517325.1:p.Ile897Leu
XM_011519024.1:c.2632A>C	XP_011517326.1:p.Ile878Leu
XM_011519025.1:c.2608A>C	XP_011517327.1:p.Ile870Leu
XM_011519026.1:c.2566A>C	XP_011517328.1:p.Ile856Leu
XM_011519027.1:c.2710A>C	XP_011517329.1:p.Ile904Leu
XM_011519029.1:c.1132A>C	XP_011517331.1:p.Ile378Leu
XM_011519030.1:c.484A>C	XP_011517332.1:p.Ile162Leu
XM_011519031.1:c.271A>C	XP_011517333.1:p.Ile91Leu
XM_011519032.1:c.271A>C	XP_011517334.1:p.Ile91Leu
XM_011519033.1:c.2545A>C	XP_011517335.1:p.Ile849Leu
NM_001354263.1:c.2680A>C	NP_001341192.1:p.Ile894Leu
XM_005266105.5:c.2692A>C	XP_005266162.1:p.Ile898Leu
XM_011519021.3:c.2710A>C	XP_011517323.1:p.Ile904Leu
XM_011519022.3:c.2707A>C	XP_011517324.1:p.Ile903Leu
XM_011519023.3:c.2689A>C	XP_011517325.1:p.Ile897Leu
XM_011519029.3:c.1132A>C	XP_011517331.1:p.Ile378Leu
XM_011519030.3:c.484A>C	XP_011517332.1:p.Ile162Leu
XM_017015134.1:c.2686A>C	XP_016870623.1:p.Ile896Leu
XM_017015136.2:c.2602A>C	XP_016870625.1:p.Ile868Leu
XM_017015137.1:c.2587A>C	XP_016870626.1:p.Ile863Leu
XM_017015138.1:c.2587A>C	XP_016870627.1:p.Ile863Leu
XM_024447674.1:c.2530A>C	XP_024303442.1:p.Ile844Leu
XM_024447675.1:c.2464A>C	XP_024303443.1:p.Ile822Leu
XM_024447676.1:c.1825A>C	XP_024303444.1:p.Ile609Leu
XM_024447677.1:c.1825A>C	XP_024303445.1:p.Ile609Leu
XM_024447678.1:c.2608A>C	XP_024303446.1:p.Ile870Leu
XM_024447680.1:c.2443A>C	XP_024303448.1:p.Ile815Leu
NM_024757.5:c.2701A>C MANE Select	NP_079033.4:p.Ile901Leu
NM_001354263.2:c.2680A>C	NP_001341192.1:p.Ile894Leu