Canonical Allele Identifier: CA375776566

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140671205G>T (hg19) ; chr9:g.137776753G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776753G>T , CM000671.2:g.137776753G>T	GRCh38
NC_000009.11:g.140671205G>T , CM000671.1:g.140671205G>T	GRCh37
NC_000009.10:g.139791026G>T	NCBI36
NG_011776.1:g.162762G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1927G>T MANE Select	ENSP00000417980.1:p.Ala643Ser
ENST00000636027.1:c.1813G>T	ENSP00000489961.1:p.Ala605Ser
ENST00000637161.1:c.1834G>T	ENSP00000490328.1:p.Ala612Ser
ENST00000637261.1:c.1967G>T	ENSP00000490815.1:n.1967G>T
ENST00000638071.1:c.1554G>T
ENST00000640639.1:c.1096G>T	ENSP00000491823.1:p.Ala366Ser
ENST00000371394.6:c.*1662G>T	ENSP00000485945.1:n.*1662G>T
ENST00000460843.5:c.1927G>T	ENSP00000417980.1:p.Ala643Ser
ENST00000462484.5:c.1927G>T	ENSP00000417328.1:p.Ala643Ser
ENST00000462942.3:c.784G>T	ENSP00000436107.1:p.Ala262Ser
ENST00000465566.2:c.475G>T	ENSP00000486261.1:p.Ala159Ser
ENST00000626603.1:n.1696C>A
NM_001145527.1:c.1927G>T	NP_001138999.1:p.Ala643Ser
NM_024757.4:c.1927G>T	NP_079033.4:p.Ala643Ser
XM_005266105.3:c.1918G>T	XP_005266162.1:p.Ala640Ser
XM_005266110.1:c.1834G>T	XP_005266167.1:p.Ala612Ser
XM_006717288.2:c.1909G>T	XP_006717351.1:p.Ala637Ser
XM_011519021.1:c.1936G>T	XP_011517323.1:p.Ala646Ser
XM_011519022.1:c.1933G>T	XP_011517324.1:p.Ala645Ser
XM_011519023.1:c.1915G>T	XP_011517325.1:p.Ala639Ser
XM_011519024.1:c.1858G>T	XP_011517326.1:p.Ala620Ser
XM_011519025.1:c.1834G>T	XP_011517327.1:p.Ala612Ser
XM_011519026.1:c.1792G>T	XP_011517328.1:p.Ala598Ser
XM_011519027.1:c.1936G>T	XP_011517329.1:p.Ala646Ser
XM_011519028.1:c.1936G>T	XP_011517330.1:p.Ala646Ser
XM_011519029.1:c.358G>T	XP_011517331.1:p.Ala120Ser
XM_011519033.1:c.1771G>T	XP_011517335.1:p.Ala591Ser
NM_001354259.1:c.1834G>T	NP_001341188.1:p.Ala612Ser
NM_001354263.1:c.1906G>T	NP_001341192.1:p.Ala636Ser
XM_005266105.5:c.1918G>T	XP_005266162.1:p.Ala640Ser
XM_011519021.3:c.1936G>T	XP_011517323.1:p.Ala646Ser
XM_011519022.3:c.1933G>T	XP_011517324.1:p.Ala645Ser
XM_011519023.3:c.1915G>T	XP_011517325.1:p.Ala639Ser
XM_011519029.3:c.358G>T	XP_011517331.1:p.Ala120Ser
XM_017015134.1:c.1912G>T	XP_016870623.1:p.Ala638Ser
XM_017015136.2:c.1828G>T	XP_016870625.1:p.Ala610Ser
XM_017015137.1:c.1813G>T	XP_016870626.1:p.Ala605Ser
XM_017015138.1:c.1813G>T	XP_016870627.1:p.Ala605Ser
XM_024447674.1:c.1756G>T	XP_024303442.1:p.Ala586Ser
XM_024447675.1:c.1690G>T	XP_024303443.1:p.Ala564Ser
XM_024447676.1:c.1051G>T	XP_024303444.1:p.Ala351Ser
XM_024447677.1:c.1051G>T	XP_024303445.1:p.Ala351Ser
XM_024447678.1:c.1834G>T	XP_024303446.1:p.Ala612Ser
XM_024447679.1:c.1834G>T	XP_024303447.1:p.Ala612Ser
XM_024447680.1:c.1669G>T	XP_024303448.1:p.Ala557Ser
NM_024757.5:c.1927G>T MANE Select	NP_079033.4:p.Ala643Ser
NM_001145527.2:c.1927G>T	NP_001138999.1:p.Ala643Ser
NM_001354259.2:c.1834G>T	NP_001341188.1:p.Ala612Ser
NM_001354263.2:c.1906G>T	NP_001341192.1:p.Ala636Ser