Canonical Allele Identifier: CA375788944

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1326637
• ClinVar RCV Id: RCV001786817
• dbSNP Id: rs2137382479
• MyVariant Identifiers: chr9:g.140695396T>C (hg19) ; chr9:g.137800944T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137800944T>C , CM000671.2:g.137800944T>C	GRCh38
NC_000009.11:g.140695396T>C , CM000671.1:g.140695396T>C	GRCh37
NC_000009.10:g.139815217T>C	NCBI36
NG_011776.1:g.186953T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2672T>C MANE Select	ENSP00000417980.1:p.Leu891Pro
ENST00000636027.1:c.2558T>C	ENSP00000489961.1:p.Leu853Pro
ENST00000637161.1:c.2579T>C	ENSP00000490328.1:p.Leu860Pro
ENST00000637261.1:c.2712T>C	ENSP00000490815.1:n.2712T>C
ENST00000637891.1:c.566T>C	ENSP00000490907.1:p.Leu189Pro
ENST00000637949.1:c.350T>C	ENSP00000489786.1:p.Leu117Pro
ENST00000460843.5:c.2672T>C	ENSP00000417980.1:p.Leu891Pro
ENST00000462942.3:c.1529T>C	ENSP00000436107.1:p.Leu510Pro
ENST00000482340.5:c.242T>C	ENSP00000486748.1:p.Leu81Pro
ENST00000486164.5:c.250T>C
ENST00000488242.2:n.198T>C
ENST00000493484.5:c.242T>C	ENSP00000486503.1:p.Leu81Pro
NM_024757.4:c.2672T>C	NP_079033.4:p.Leu891Pro
XM_005266105.3:c.2663T>C	XP_005266162.1:p.Leu888Pro
XM_005266110.1:c.2579T>C	XP_005266167.1:p.Leu860Pro
XM_006717288.2:c.2654T>C	XP_006717351.1:p.Leu885Pro
XM_011519021.1:c.2681T>C	XP_011517323.1:p.Leu894Pro
XM_011519022.1:c.2678T>C	XP_011517324.1:p.Leu893Pro
XM_011519023.1:c.2660T>C	XP_011517325.1:p.Leu887Pro
XM_011519024.1:c.2603T>C	XP_011517326.1:p.Leu868Pro
XM_011519025.1:c.2579T>C	XP_011517327.1:p.Leu860Pro
XM_011519026.1:c.2537T>C	XP_011517328.1:p.Leu846Pro
XM_011519027.1:c.2681T>C	XP_011517329.1:p.Leu894Pro
XM_011519029.1:c.1103T>C	XP_011517331.1:p.Leu368Pro
XM_011519030.1:c.455T>C	XP_011517332.1:p.Leu152Pro
XM_011519031.1:c.242T>C	XP_011517333.1:p.Leu81Pro
XM_011519032.1:c.242T>C	XP_011517334.1:p.Leu81Pro
XM_011519033.1:c.2516T>C	XP_011517335.1:p.Leu839Pro
NM_001354263.1:c.2651T>C	NP_001341192.1:p.Leu884Pro
XM_005266105.5:c.2663T>C	XP_005266162.1:p.Leu888Pro
XM_011519021.3:c.2681T>C	XP_011517323.1:p.Leu894Pro
XM_011519022.3:c.2678T>C	XP_011517324.1:p.Leu893Pro
XM_011519023.3:c.2660T>C	XP_011517325.1:p.Leu887Pro
XM_011519029.3:c.1103T>C	XP_011517331.1:p.Leu368Pro
XM_011519030.3:c.455T>C	XP_011517332.1:p.Leu152Pro
XM_017015134.1:c.2657T>C	XP_016870623.1:p.Leu886Pro
XM_017015136.2:c.2573T>C	XP_016870625.1:p.Leu858Pro
XM_017015137.1:c.2558T>C	XP_016870626.1:p.Leu853Pro
XM_017015138.1:c.2558T>C	XP_016870627.1:p.Leu853Pro
XM_024447674.1:c.2501T>C	XP_024303442.1:p.Leu834Pro
XM_024447675.1:c.2435T>C	XP_024303443.1:p.Leu812Pro
XM_024447676.1:c.1796T>C	XP_024303444.1:p.Leu599Pro
XM_024447677.1:c.1796T>C	XP_024303445.1:p.Leu599Pro
XM_024447678.1:c.2579T>C	XP_024303446.1:p.Leu860Pro
XM_024447680.1:c.2414T>C	XP_024303448.1:p.Leu805Pro
NM_024757.5:c.2672T>C MANE Select	NP_079033.4:p.Leu891Pro
NM_001354263.2:c.2651T>C	NP_001341192.1:p.Leu884Pro