Canonical Allele Identifier: CA375793558

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140707559A>C (hg19) ; chr9:g.137813107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137813107A>C , CM000671.2:g.137813107A>C	GRCh38
NC_000009.11:g.140707559A>C , CM000671.1:g.140707559A>C	GRCh37
NC_000009.10:g.139827380A>C	NCBI36
NG_011776.1:g.199116A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.2969A>C MANE Select	ENSP00000417980.1:p.Gln990Pro
ENST00000636027.1:c.2855A>C	ENSP00000489961.1:p.Gln952Pro
ENST00000637161.1:c.2876A>C	ENSP00000490328.1:p.Gln959Pro
ENST00000637261.1:c.3009A>C	ENSP00000490815.1:n.3009A>C
ENST00000637891.1:c.863A>C	ENSP00000490907.1:p.Gln288Pro
ENST00000460843.5:c.2969A>C	ENSP00000417980.1:p.Gln990Pro
ENST00000462942.3:c.1826A>C	ENSP00000436107.1:p.Gln609Pro
ENST00000486164.5:c.656A>C
ENST00000488242.2:n.495A>C
NM_024757.4:c.2969A>C	NP_079033.4:p.Gln990Pro
XM_005266105.3:c.2960A>C	XP_005266162.1:p.Gln987Pro
XM_005266110.1:c.2876A>C	XP_005266167.1:p.Gln959Pro
XM_006717288.2:c.2951A>C	XP_006717351.1:p.Gln984Pro
XM_011519021.1:c.2978A>C	XP_011517323.1:p.Gln993Pro
XM_011519022.1:c.2975A>C	XP_011517324.1:p.Gln992Pro
XM_011519023.1:c.2957A>C	XP_011517325.1:p.Gln986Pro
XM_011519024.1:c.2900A>C	XP_011517326.1:p.Gln967Pro
XM_011519025.1:c.2876A>C	XP_011517327.1:p.Gln959Pro
XM_011519026.1:c.2834A>C	XP_011517328.1:p.Gln945Pro
XM_011519029.1:c.1400A>C	XP_011517331.1:p.Gln467Pro
XM_011519030.1:c.752A>C	XP_011517332.1:p.Gln251Pro
XM_011519031.1:c.539A>C	XP_011517333.1:p.Gln180Pro
XM_011519032.1:c.539A>C	XP_011517334.1:p.Gln180Pro
XM_011519033.1:c.2813A>C	XP_011517335.1:p.Gln938Pro
NM_001354263.1:c.2948A>C	NP_001341192.1:p.Gln983Pro
XM_005266105.5:c.2960A>C	XP_005266162.1:p.Gln987Pro
XM_011519021.3:c.2978A>C	XP_011517323.1:p.Gln993Pro
XM_011519022.3:c.2975A>C	XP_011517324.1:p.Gln992Pro
XM_011519023.3:c.2957A>C	XP_011517325.1:p.Gln986Pro
XM_011519029.3:c.1400A>C	XP_011517331.1:p.Gln467Pro
XM_011519030.3:c.752A>C	XP_011517332.1:p.Gln251Pro
XM_017015134.1:c.2954A>C	XP_016870623.1:p.Gln985Pro
XM_017015136.2:c.2870A>C	XP_016870625.1:p.Gln957Pro
XM_017015137.1:c.2855A>C	XP_016870626.1:p.Gln952Pro
XM_017015138.1:c.2855A>C	XP_016870627.1:p.Gln952Pro
XM_024447674.1:c.2798A>C	XP_024303442.1:p.Gln933Pro
XM_024447675.1:c.2732A>C	XP_024303443.1:p.Gln911Pro
XM_024447676.1:c.2093A>C	XP_024303444.1:p.Gln698Pro
XM_024447677.1:c.2093A>C	XP_024303445.1:p.Gln698Pro
XM_024447680.1:c.2711A>C	XP_024303448.1:p.Gln904Pro
NM_024757.5:c.2969A>C MANE Select	NP_079033.4:p.Gln990Pro
NM_001354263.2:c.2948A>C	NP_001341192.1:p.Gln983Pro