Canonical Allele Identifier: CA201804218

Gene: EHMT1

Linked Data

• dbSNP Id: rs112791701
• gnomAD v4: 9-137776814-T-C
• MyVariant Identifiers: chr9:g.140671266T>C (hg19) ; chr9:g.137776814T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776814T>C , CM000671.2:g.137776814T>C	GRCh38
NC_000009.11:g.140671266T>C , CM000671.1:g.140671266T>C	GRCh37
NC_000009.10:g.139791087T>C	NCBI36
NG_011776.1:g.162823T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1988T>C MANE Select	ENSP00000417980.1:p.Leu663Pro
ENST00000636027.1:c.1874T>C	ENSP00000489961.1:p.Leu625Pro
ENST00000637161.1:c.1895T>C	ENSP00000490328.1:p.Leu632Pro
ENST00000637261.1:c.2028T>C	ENSP00000490815.1:n.2028T>C
ENST00000638071.1:c.1615T>C
ENST00000640639.1:c.1157T>C	ENSP00000491823.1:p.Leu386Pro
ENST00000371394.6:c.*1723T>C	ENSP00000485945.1:n.*1723T>C
ENST00000460843.5:c.1988T>C	ENSP00000417980.1:p.Leu663Pro
ENST00000462484.5:c.1988T>C	ENSP00000417328.1:p.Leu663Pro
ENST00000462942.3:c.845T>C	ENSP00000436107.1:p.Leu282Pro
ENST00000626603.1:n.1635A>G
NM_001145527.1:c.1988T>C	NP_001138999.1:p.Leu663Pro
NM_024757.4:c.1988T>C	NP_079033.4:p.Leu663Pro
XM_005266105.3:c.1979T>C	XP_005266162.1:p.Leu660Pro
XM_005266110.1:c.1895T>C	XP_005266167.1:p.Leu632Pro
XM_006717288.2:c.1970T>C	XP_006717351.1:p.Leu657Pro
XM_011519021.1:c.1997T>C	XP_011517323.1:p.Leu666Pro
XM_011519022.1:c.1994T>C	XP_011517324.1:p.Leu665Pro
XM_011519023.1:c.1976T>C	XP_011517325.1:p.Leu659Pro
XM_011519024.1:c.1919T>C	XP_011517326.1:p.Leu640Pro
XM_011519025.1:c.1895T>C	XP_011517327.1:p.Leu632Pro
XM_011519026.1:c.1853T>C	XP_011517328.1:p.Leu618Pro
XM_011519027.1:c.1997T>C	XP_011517329.1:p.Leu666Pro
XM_011519028.1:c.1997T>C	XP_011517330.1:p.Leu666Pro
XM_011519029.1:c.419T>C	XP_011517331.1:p.Leu140Pro
XM_011519033.1:c.1832T>C	XP_011517335.1:p.Leu611Pro
NM_001354259.1:c.1895T>C	NP_001341188.1:p.Leu632Pro
NM_001354263.1:c.1967T>C	NP_001341192.1:p.Leu656Pro
XM_005266105.5:c.1979T>C	XP_005266162.1:p.Leu660Pro
XM_011519021.3:c.1997T>C	XP_011517323.1:p.Leu666Pro
XM_011519022.3:c.1994T>C	XP_011517324.1:p.Leu665Pro
XM_011519023.3:c.1976T>C	XP_011517325.1:p.Leu659Pro
XM_011519029.3:c.419T>C	XP_011517331.1:p.Leu140Pro
XM_017015134.1:c.1973T>C	XP_016870623.1:p.Leu658Pro
XM_017015136.2:c.1889T>C	XP_016870625.1:p.Leu630Pro
XM_017015137.1:c.1874T>C	XP_016870626.1:p.Leu625Pro
XM_017015138.1:c.1874T>C	XP_016870627.1:p.Leu625Pro
XM_024447674.1:c.1817T>C	XP_024303442.1:p.Leu606Pro
XM_024447675.1:c.1751T>C	XP_024303443.1:p.Leu584Pro
XM_024447676.1:c.1112T>C	XP_024303444.1:p.Leu371Pro
XM_024447677.1:c.1112T>C	XP_024303445.1:p.Leu371Pro
XM_024447678.1:c.1895T>C	XP_024303446.1:p.Leu632Pro
XM_024447679.1:c.1895T>C	XP_024303447.1:p.Leu632Pro
XM_024447680.1:c.1730T>C	XP_024303448.1:p.Leu577Pro
NM_024757.5:c.1988T>C MANE Select	NP_079033.4:p.Leu663Pro
NM_001145527.2:c.1988T>C	NP_001138999.1:p.Leu663Pro
NM_001354259.2:c.1895T>C	NP_001341188.1:p.Leu632Pro
NM_001354263.2:c.1967T>C	NP_001341192.1:p.Leu656Pro