Canonical Allele Identifier: CA375776975

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1519396
• ClinVar RCV Id: RCV002024581
• dbSNP Id: rs1588650026
• MyVariant Identifiers: chr9:g.140671275G>C (hg19) ; chr9:g.137776823G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776823G>C , CM000671.2:g.137776823G>C	GRCh38
NC_000009.11:g.140671275G>C , CM000671.1:g.140671275G>C	GRCh37
NC_000009.10:g.139791096G>C	NCBI36
NG_011776.1:g.162832G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1997G>C MANE Select	ENSP00000417980.1:p.Arg666Thr
ENST00000636027.1:c.1883G>C	ENSP00000489961.1:p.Arg628Thr
ENST00000637161.1:c.1904G>C	ENSP00000490328.1:p.Arg635Thr
ENST00000637261.1:c.2037G>C	ENSP00000490815.1:n.2037G>C
ENST00000638071.1:c.1624G>C
ENST00000640639.1:c.1166G>C	ENSP00000491823.1:p.Arg389Thr
ENST00000371394.6:c.*1732G>C	ENSP00000485945.1:n.*1732G>C
ENST00000460843.5:c.1997G>C	ENSP00000417980.1:p.Arg666Thr
ENST00000462484.5:c.1997G>C	ENSP00000417328.1:p.Arg666Thr
ENST00000462942.3:c.854G>C	ENSP00000436107.1:p.Arg285Thr
ENST00000626603.1:n.1626C>G
NM_001145527.1:c.1997G>C	NP_001138999.1:p.Arg666Thr
NM_024757.4:c.1997G>C	NP_079033.4:p.Arg666Thr
XM_005266105.3:c.1988G>C	XP_005266162.1:p.Arg663Thr
XM_005266110.1:c.1904G>C	XP_005266167.1:p.Arg635Thr
XM_006717288.2:c.1979G>C	XP_006717351.1:p.Arg660Thr
XM_011519021.1:c.2006G>C	XP_011517323.1:p.Arg669Thr
XM_011519022.1:c.2003G>C	XP_011517324.1:p.Arg668Thr
XM_011519023.1:c.1985G>C	XP_011517325.1:p.Arg662Thr
XM_011519024.1:c.1928G>C	XP_011517326.1:p.Arg643Thr
XM_011519025.1:c.1904G>C	XP_011517327.1:p.Arg635Thr
XM_011519026.1:c.1862G>C	XP_011517328.1:p.Arg621Thr
XM_011519027.1:c.2006G>C	XP_011517329.1:p.Arg669Thr
XM_011519028.1:c.2006G>C	XP_011517330.1:p.Arg669Thr
XM_011519029.1:c.428G>C	XP_011517331.1:p.Arg143Thr
XM_011519033.1:c.1841G>C	XP_011517335.1:p.Arg614Thr
NM_001354259.1:c.1904G>C	NP_001341188.1:p.Arg635Thr
NM_001354263.1:c.1976G>C	NP_001341192.1:p.Arg659Thr
XM_005266105.5:c.1988G>C	XP_005266162.1:p.Arg663Thr
XM_011519021.3:c.2006G>C	XP_011517323.1:p.Arg669Thr
XM_011519022.3:c.2003G>C	XP_011517324.1:p.Arg668Thr
XM_011519023.3:c.1985G>C	XP_011517325.1:p.Arg662Thr
XM_011519029.3:c.428G>C	XP_011517331.1:p.Arg143Thr
XM_017015134.1:c.1982G>C	XP_016870623.1:p.Arg661Thr
XM_017015136.2:c.1898G>C	XP_016870625.1:p.Arg633Thr
XM_017015137.1:c.1883G>C	XP_016870626.1:p.Arg628Thr
XM_017015138.1:c.1883G>C	XP_016870627.1:p.Arg628Thr
XM_024447674.1:c.1826G>C	XP_024303442.1:p.Arg609Thr
XM_024447675.1:c.1760G>C	XP_024303443.1:p.Arg587Thr
XM_024447676.1:c.1121G>C	XP_024303444.1:p.Arg374Thr
XM_024447677.1:c.1121G>C	XP_024303445.1:p.Arg374Thr
XM_024447678.1:c.1904G>C	XP_024303446.1:p.Arg635Thr
XM_024447679.1:c.1904G>C	XP_024303447.1:p.Arg635Thr
XM_024447680.1:c.1739G>C	XP_024303448.1:p.Arg580Thr
NM_024757.5:c.1997G>C MANE Select	NP_079033.4:p.Arg666Thr
NM_001145527.2:c.1997G>C	NP_001138999.1:p.Arg666Thr
NM_001354259.2:c.1904G>C	NP_001341188.1:p.Arg635Thr
NM_001354263.2:c.1976G>C	NP_001341192.1:p.Arg659Thr