Canonical Allele Identifier: CA375776473

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140671196G>C (hg19) ; chr9:g.137776744G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776744G>C , CM000671.2:g.137776744G>C	GRCh38
NC_000009.11:g.140671196G>C , CM000671.1:g.140671196G>C	GRCh37
NC_000009.10:g.139791017G>C	NCBI36
NG_011776.1:g.162753G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1918G>C MANE Select	ENSP00000417980.1:p.Val640Leu
ENST00000636027.1:c.1804G>C	ENSP00000489961.1:p.Val602Leu
ENST00000637161.1:c.1825G>C	ENSP00000490328.1:p.Val609Leu
ENST00000637261.1:c.1958G>C	ENSP00000490815.1:n.1958G>C
ENST00000638071.1:c.1545G>C
ENST00000640639.1:c.1087G>C	ENSP00000491823.1:p.Val363Leu
ENST00000371394.6:c.*1653G>C	ENSP00000485945.1:n.*1653G>C
ENST00000460843.5:c.1918G>C	ENSP00000417980.1:p.Val640Leu
ENST00000462484.5:c.1918G>C	ENSP00000417328.1:p.Val640Leu
ENST00000462942.3:c.775G>C	ENSP00000436107.1:p.Val259Leu
ENST00000465566.2:c.466G>C	ENSP00000486261.1:p.Val156Leu
ENST00000626603.1:n.1705C>G
NM_001145527.1:c.1918G>C	NP_001138999.1:p.Val640Leu
NM_024757.4:c.1918G>C	NP_079033.4:p.Val640Leu
XM_005266105.3:c.1909G>C	XP_005266162.1:p.Val637Leu
XM_005266110.1:c.1825G>C	XP_005266167.1:p.Val609Leu
XM_006717288.2:c.1900G>C	XP_006717351.1:p.Val634Leu
XM_011519021.1:c.1927G>C	XP_011517323.1:p.Val643Leu
XM_011519022.1:c.1924G>C	XP_011517324.1:p.Val642Leu
XM_011519023.1:c.1906G>C	XP_011517325.1:p.Val636Leu
XM_011519024.1:c.1849G>C	XP_011517326.1:p.Val617Leu
XM_011519025.1:c.1825G>C	XP_011517327.1:p.Val609Leu
XM_011519026.1:c.1783G>C	XP_011517328.1:p.Val595Leu
XM_011519027.1:c.1927G>C	XP_011517329.1:p.Val643Leu
XM_011519028.1:c.1927G>C	XP_011517330.1:p.Val643Leu
XM_011519029.1:c.349G>C	XP_011517331.1:p.Val117Leu
XM_011519033.1:c.1762G>C	XP_011517335.1:p.Val588Leu
NM_001354259.1:c.1825G>C	NP_001341188.1:p.Val609Leu
NM_001354263.1:c.1897G>C	NP_001341192.1:p.Val633Leu
XM_005266105.5:c.1909G>C	XP_005266162.1:p.Val637Leu
XM_011519021.3:c.1927G>C	XP_011517323.1:p.Val643Leu
XM_011519022.3:c.1924G>C	XP_011517324.1:p.Val642Leu
XM_011519023.3:c.1906G>C	XP_011517325.1:p.Val636Leu
XM_011519029.3:c.349G>C	XP_011517331.1:p.Val117Leu
XM_017015134.1:c.1903G>C	XP_016870623.1:p.Val635Leu
XM_017015136.2:c.1819G>C	XP_016870625.1:p.Val607Leu
XM_017015137.1:c.1804G>C	XP_016870626.1:p.Val602Leu
XM_017015138.1:c.1804G>C	XP_016870627.1:p.Val602Leu
XM_024447674.1:c.1747G>C	XP_024303442.1:p.Val583Leu
XM_024447675.1:c.1681G>C	XP_024303443.1:p.Val561Leu
XM_024447676.1:c.1042G>C	XP_024303444.1:p.Val348Leu
XM_024447677.1:c.1042G>C	XP_024303445.1:p.Val348Leu
XM_024447678.1:c.1825G>C	XP_024303446.1:p.Val609Leu
XM_024447679.1:c.1825G>C	XP_024303447.1:p.Val609Leu
XM_024447680.1:c.1660G>C	XP_024303448.1:p.Val554Leu
NM_024757.5:c.1918G>C MANE Select	NP_079033.4:p.Val640Leu
NM_001145527.2:c.1918G>C	NP_001138999.1:p.Val640Leu
NM_001354259.2:c.1825G>C	NP_001341188.1:p.Val609Leu
NM_001354263.2:c.1897G>C	NP_001341192.1:p.Val633Leu