Canonical Allele Identifier: CA375793449

Gene: EHMT1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2942T>C MANE Select	ENSP00000417980.1:p.Leu981Pro
ENST00000636027.1:c.2828T>C	ENSP00000489961.1:p.Leu943Pro
ENST00000637161.1:c.2849T>C	ENSP00000490328.1:p.Leu950Pro
ENST00000637261.1:c.2982T>C	ENSP00000490815.1:n.2982T>C
ENST00000637891.1:c.836T>C	ENSP00000490907.1:p.Leu279Pro
ENST00000460843.5:c.2942T>C	ENSP00000417980.1:p.Leu981Pro
ENST00000462942.3:c.1799T>C	ENSP00000436107.1:p.Leu600Pro
ENST00000486164.5:c.629T>C
ENST00000488242.2:n.468T>C
NM_024757.4:c.2942T>C	NP_079033.4:p.Leu981Pro
XM_005266105.3:c.2933T>C	XP_005266162.1:p.Leu978Pro
XM_005266110.1:c.2849T>C	XP_005266167.1:p.Leu950Pro
XM_006717288.2:c.2924T>C	XP_006717351.1:p.Leu975Pro
XM_011519021.1:c.2951T>C	XP_011517323.1:p.Leu984Pro
XM_011519022.1:c.2948T>C	XP_011517324.1:p.Leu983Pro
XM_011519023.1:c.2930T>C	XP_011517325.1:p.Leu977Pro
XM_011519024.1:c.2873T>C	XP_011517326.1:p.Leu958Pro
XM_011519025.1:c.2849T>C	XP_011517327.1:p.Leu950Pro
XM_011519026.1:c.2807T>C	XP_011517328.1:p.Leu936Pro
XM_011519029.1:c.1373T>C	XP_011517331.1:p.Leu458Pro
XM_011519030.1:c.725T>C	XP_011517332.1:p.Leu242Pro
XM_011519031.1:c.512T>C	XP_011517333.1:p.Leu171Pro
XM_011519032.1:c.512T>C	XP_011517334.1:p.Leu171Pro
XM_011519033.1:c.2786T>C	XP_011517335.1:p.Leu929Pro
NM_001354263.1:c.2921T>C	NP_001341192.1:p.Leu974Pro
XM_005266105.5:c.2933T>C	XP_005266162.1:p.Leu978Pro
XM_011519021.3:c.2951T>C	XP_011517323.1:p.Leu984Pro
XM_011519022.3:c.2948T>C	XP_011517324.1:p.Leu983Pro
XM_011519023.3:c.2930T>C	XP_011517325.1:p.Leu977Pro
XM_011519029.3:c.1373T>C	XP_011517331.1:p.Leu458Pro
XM_011519030.3:c.725T>C	XP_011517332.1:p.Leu242Pro
XM_017015134.1:c.2927T>C	XP_016870623.1:p.Leu976Pro
XM_017015136.2:c.2843T>C	XP_016870625.1:p.Leu948Pro
XM_017015137.1:c.2828T>C	XP_016870626.1:p.Leu943Pro
XM_017015138.1:c.2828T>C	XP_016870627.1:p.Leu943Pro
XM_024447674.1:c.2771T>C	XP_024303442.1:p.Leu924Pro
XM_024447675.1:c.2705T>C	XP_024303443.1:p.Leu902Pro
XM_024447676.1:c.2066T>C	XP_024303444.1:p.Leu689Pro
XM_024447677.1:c.2066T>C	XP_024303445.1:p.Leu689Pro
XM_024447680.1:c.2684T>C	XP_024303448.1:p.Leu895Pro
NM_024757.5:c.2942T>C MANE Select	NP_079033.4:p.Leu981Pro
NM_001354263.2:c.2921T>C	NP_001341192.1:p.Leu974Pro