Canonical Allele Identifier: CA375793287

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137813038-T-C
• MyVariant Identifiers: chr9:g.140707490T>C (hg19) ; chr9:g.137813038T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813038T>C , CM000671.2:g.137813038T>C	GRCh38
NC_000009.11:g.140707490T>C , CM000671.1:g.140707490T>C	GRCh37
NC_000009.10:g.139827311T>C	NCBI36
NG_011776.1:g.199047T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2900T>C MANE Select	ENSP00000417980.1:p.Leu967Ser
ENST00000636027.1:c.2786T>C	ENSP00000489961.1:p.Leu929Ser
ENST00000637161.1:c.2807T>C	ENSP00000490328.1:p.Leu936Ser
ENST00000637261.1:c.2940T>C	ENSP00000490815.1:n.2940T>C
ENST00000637891.1:c.794T>C	ENSP00000490907.1:p.Leu265Ser
ENST00000460843.5:c.2900T>C	ENSP00000417980.1:p.Leu967Ser
ENST00000462942.3:c.1757T>C	ENSP00000436107.1:p.Leu586Ser
ENST00000486164.5:c.587T>C
ENST00000488242.2:n.426T>C
NM_024757.4:c.2900T>C	NP_079033.4:p.Leu967Ser
XM_005266105.3:c.2891T>C	XP_005266162.1:p.Leu964Ser
XM_005266110.1:c.2807T>C	XP_005266167.1:p.Leu936Ser
XM_006717288.2:c.2882T>C	XP_006717351.1:p.Leu961Ser
XM_011519021.1:c.2909T>C	XP_011517323.1:p.Leu970Ser
XM_011519022.1:c.2906T>C	XP_011517324.1:p.Leu969Ser
XM_011519023.1:c.2888T>C	XP_011517325.1:p.Leu963Ser
XM_011519024.1:c.2831T>C	XP_011517326.1:p.Leu944Ser
XM_011519025.1:c.2807T>C	XP_011517327.1:p.Leu936Ser
XM_011519026.1:c.2765T>C	XP_011517328.1:p.Leu922Ser
XM_011519029.1:c.1331T>C	XP_011517331.1:p.Leu444Ser
XM_011519030.1:c.683T>C	XP_011517332.1:p.Leu228Ser
XM_011519031.1:c.470T>C	XP_011517333.1:p.Leu157Ser
XM_011519032.1:c.470T>C	XP_011517334.1:p.Leu157Ser
XM_011519033.1:c.2744T>C	XP_011517335.1:p.Leu915Ser
NM_001354263.1:c.2879T>C	NP_001341192.1:p.Leu960Ser
XM_005266105.5:c.2891T>C	XP_005266162.1:p.Leu964Ser
XM_011519021.3:c.2909T>C	XP_011517323.1:p.Leu970Ser
XM_011519022.3:c.2906T>C	XP_011517324.1:p.Leu969Ser
XM_011519023.3:c.2888T>C	XP_011517325.1:p.Leu963Ser
XM_011519029.3:c.1331T>C	XP_011517331.1:p.Leu444Ser
XM_011519030.3:c.683T>C	XP_011517332.1:p.Leu228Ser
XM_017015134.1:c.2885T>C	XP_016870623.1:p.Leu962Ser
XM_017015136.2:c.2801T>C	XP_016870625.1:p.Leu934Ser
XM_017015137.1:c.2786T>C	XP_016870626.1:p.Leu929Ser
XM_017015138.1:c.2786T>C	XP_016870627.1:p.Leu929Ser
XM_024447674.1:c.2729T>C	XP_024303442.1:p.Leu910Ser
XM_024447675.1:c.2663T>C	XP_024303443.1:p.Leu888Ser
XM_024447676.1:c.2024T>C	XP_024303444.1:p.Leu675Ser
XM_024447677.1:c.2024T>C	XP_024303445.1:p.Leu675Ser
XM_024447680.1:c.2642T>C	XP_024303448.1:p.Leu881Ser
NM_024757.5:c.2900T>C MANE Select	NP_079033.4:p.Leu967Ser
NM_001354263.2:c.2879T>C	NP_001341192.1:p.Leu960Ser