Canonical Allele Identifier: CA375793450

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707532T>G (hg19) ; chr9:g.137813080T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813080T>G , CM000671.2:g.137813080T>G	GRCh38
NC_000009.11:g.140707532T>G , CM000671.1:g.140707532T>G	GRCh37
NC_000009.10:g.139827353T>G	NCBI36
NG_011776.1:g.199089T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2942T>G MANE Select	ENSP00000417980.1:p.Leu981Arg
ENST00000636027.1:c.2828T>G	ENSP00000489961.1:p.Leu943Arg
ENST00000637161.1:c.2849T>G	ENSP00000490328.1:p.Leu950Arg
ENST00000637261.1:c.2982T>G	ENSP00000490815.1:n.2982T>G
ENST00000637891.1:c.836T>G	ENSP00000490907.1:p.Leu279Arg
ENST00000460843.5:c.2942T>G	ENSP00000417980.1:p.Leu981Arg
ENST00000462942.3:c.1799T>G	ENSP00000436107.1:p.Leu600Arg
ENST00000486164.5:c.629T>G
ENST00000488242.2:n.468T>G
NM_024757.4:c.2942T>G	NP_079033.4:p.Leu981Arg
XM_005266105.3:c.2933T>G	XP_005266162.1:p.Leu978Arg
XM_005266110.1:c.2849T>G	XP_005266167.1:p.Leu950Arg
XM_006717288.2:c.2924T>G	XP_006717351.1:p.Leu975Arg
XM_011519021.1:c.2951T>G	XP_011517323.1:p.Leu984Arg
XM_011519022.1:c.2948T>G	XP_011517324.1:p.Leu983Arg
XM_011519023.1:c.2930T>G	XP_011517325.1:p.Leu977Arg
XM_011519024.1:c.2873T>G	XP_011517326.1:p.Leu958Arg
XM_011519025.1:c.2849T>G	XP_011517327.1:p.Leu950Arg
XM_011519026.1:c.2807T>G	XP_011517328.1:p.Leu936Arg
XM_011519029.1:c.1373T>G	XP_011517331.1:p.Leu458Arg
XM_011519030.1:c.725T>G	XP_011517332.1:p.Leu242Arg
XM_011519031.1:c.512T>G	XP_011517333.1:p.Leu171Arg
XM_011519032.1:c.512T>G	XP_011517334.1:p.Leu171Arg
XM_011519033.1:c.2786T>G	XP_011517335.1:p.Leu929Arg
NM_001354263.1:c.2921T>G	NP_001341192.1:p.Leu974Arg
XM_005266105.5:c.2933T>G	XP_005266162.1:p.Leu978Arg
XM_011519021.3:c.2951T>G	XP_011517323.1:p.Leu984Arg
XM_011519022.3:c.2948T>G	XP_011517324.1:p.Leu983Arg
XM_011519023.3:c.2930T>G	XP_011517325.1:p.Leu977Arg
XM_011519029.3:c.1373T>G	XP_011517331.1:p.Leu458Arg
XM_011519030.3:c.725T>G	XP_011517332.1:p.Leu242Arg
XM_017015134.1:c.2927T>G	XP_016870623.1:p.Leu976Arg
XM_017015136.2:c.2843T>G	XP_016870625.1:p.Leu948Arg
XM_017015137.1:c.2828T>G	XP_016870626.1:p.Leu943Arg
XM_017015138.1:c.2828T>G	XP_016870627.1:p.Leu943Arg
XM_024447674.1:c.2771T>G	XP_024303442.1:p.Leu924Arg
XM_024447675.1:c.2705T>G	XP_024303443.1:p.Leu902Arg
XM_024447676.1:c.2066T>G	XP_024303444.1:p.Leu689Arg
XM_024447677.1:c.2066T>G	XP_024303445.1:p.Leu689Arg
XM_024447680.1:c.2684T>G	XP_024303448.1:p.Leu895Arg
NM_024757.5:c.2942T>G MANE Select	NP_079033.4:p.Leu981Arg
NM_001354263.2:c.2921T>G	NP_001341192.1:p.Leu974Arg