Canonical Allele Identifier: CA375776819

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140671248A>C (hg19) ; chr9:g.137776796A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776796A>C , CM000671.2:g.137776796A>C	GRCh38
NC_000009.11:g.140671248A>C , CM000671.1:g.140671248A>C	GRCh37
NC_000009.10:g.139791069A>C	NCBI36
NG_011776.1:g.162805A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1970A>C MANE Select	ENSP00000417980.1:p.Gln657Pro
ENST00000636027.1:c.1856A>C	ENSP00000489961.1:p.Gln619Pro
ENST00000637161.1:c.1877A>C	ENSP00000490328.1:p.Gln626Pro
ENST00000637261.1:c.2010A>C	ENSP00000490815.1:n.2010A>C
ENST00000638071.1:c.1597A>C
ENST00000640639.1:c.1139A>C	ENSP00000491823.1:p.Gln380Pro
ENST00000371394.6:c.*1705A>C	ENSP00000485945.1:n.*1705A>C
ENST00000460843.5:c.1970A>C	ENSP00000417980.1:p.Gln657Pro
ENST00000462484.5:c.1970A>C	ENSP00000417328.1:p.Gln657Pro
ENST00000462942.3:c.827A>C	ENSP00000436107.1:p.Gln276Pro
ENST00000626603.1:n.1653T>G
NM_001145527.1:c.1970A>C	NP_001138999.1:p.Gln657Pro
NM_024757.4:c.1970A>C	NP_079033.4:p.Gln657Pro
XM_005266105.3:c.1961A>C	XP_005266162.1:p.Gln654Pro
XM_005266110.1:c.1877A>C	XP_005266167.1:p.Gln626Pro
XM_006717288.2:c.1952A>C	XP_006717351.1:p.Gln651Pro
XM_011519021.1:c.1979A>C	XP_011517323.1:p.Gln660Pro
XM_011519022.1:c.1976A>C	XP_011517324.1:p.Gln659Pro
XM_011519023.1:c.1958A>C	XP_011517325.1:p.Gln653Pro
XM_011519024.1:c.1901A>C	XP_011517326.1:p.Gln634Pro
XM_011519025.1:c.1877A>C	XP_011517327.1:p.Gln626Pro
XM_011519026.1:c.1835A>C	XP_011517328.1:p.Gln612Pro
XM_011519027.1:c.1979A>C	XP_011517329.1:p.Gln660Pro
XM_011519028.1:c.1979A>C	XP_011517330.1:p.Gln660Pro
XM_011519029.1:c.401A>C	XP_011517331.1:p.Gln134Pro
XM_011519033.1:c.1814A>C	XP_011517335.1:p.Gln605Pro
NM_001354259.1:c.1877A>C	NP_001341188.1:p.Gln626Pro
NM_001354263.1:c.1949A>C	NP_001341192.1:p.Gln650Pro
XM_005266105.5:c.1961A>C	XP_005266162.1:p.Gln654Pro
XM_011519021.3:c.1979A>C	XP_011517323.1:p.Gln660Pro
XM_011519022.3:c.1976A>C	XP_011517324.1:p.Gln659Pro
XM_011519023.3:c.1958A>C	XP_011517325.1:p.Gln653Pro
XM_011519029.3:c.401A>C	XP_011517331.1:p.Gln134Pro
XM_017015134.1:c.1955A>C	XP_016870623.1:p.Gln652Pro
XM_017015136.2:c.1871A>C	XP_016870625.1:p.Gln624Pro
XM_017015137.1:c.1856A>C	XP_016870626.1:p.Gln619Pro
XM_017015138.1:c.1856A>C	XP_016870627.1:p.Gln619Pro
XM_024447674.1:c.1799A>C	XP_024303442.1:p.Gln600Pro
XM_024447675.1:c.1733A>C	XP_024303443.1:p.Gln578Pro
XM_024447676.1:c.1094A>C	XP_024303444.1:p.Gln365Pro
XM_024447677.1:c.1094A>C	XP_024303445.1:p.Gln365Pro
XM_024447678.1:c.1877A>C	XP_024303446.1:p.Gln626Pro
XM_024447679.1:c.1877A>C	XP_024303447.1:p.Gln626Pro
XM_024447680.1:c.1712A>C	XP_024303448.1:p.Gln571Pro
NM_024757.5:c.1970A>C MANE Select	NP_079033.4:p.Gln657Pro
NM_001145527.2:c.1970A>C	NP_001138999.1:p.Gln657Pro
NM_001354259.2:c.1877A>C	NP_001341188.1:p.Gln626Pro
NM_001354263.2:c.1949A>C	NP_001341192.1:p.Gln650Pro