Canonical Allele Identifier: CA16043441

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 374120
• ClinVar RCV Id: RCV000414996 ; RCV000856744
• dbSNP Id: rs1057518913
• MyVariant Identifiers: chr9:g.140657274T>C (hg19) ; chr9:g.137762822T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762822T>C , CM000671.2:g.137762822T>C	GRCh38
NC_000009.11:g.140657274T>C , CM000671.1:g.140657274T>C	GRCh37
NC_000009.10:g.139777095T>C	NCBI36
NG_011776.1:g.148831T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1647+2T>C MANE Select	ENSP00000417980.1:n.1647+2T>C
ENST00000629335.2:c.1649T>C	ENSP00000490056.1:p.Val550Ala
ENST00000636027.1:c.1533+2T>C	ENSP00000489961.1:n.1533+2T>C
ENST00000637161.1:c.1554+2T>C	ENSP00000490328.1:n.1554+2T>C
ENST00000637261.1:c.1687+2T>C	ENSP00000490815.1:n.1687+2T>C
ENST00000637977.1:c.1592+2T>C
ENST00000638071.1:c.1274+2T>C
ENST00000640639.1:c.816+2T>C	ENSP00000491823.1:n.816+2T>C
ENST00000371394.6:c.*1382+2T>C	ENSP00000485945.1:n.*1382+2T>C
ENST00000460843.5:c.1647+2T>C	ENSP00000417980.1:n.1647+2T>C
ENST00000462484.5:c.1647+2T>C	ENSP00000417328.1:n.1647+2T>C
ENST00000462942.3:c.504+2T>C	ENSP00000436107.1:n.504+2T>C
ENST00000465566.2:c.339+2T>C	ENSP00000486261.1:n.339+2T>C
NM_001145527.1:c.1647+2T>C	NP_001138999.1:n.1647+2T>C
NM_024757.4:c.1647+2T>C	NP_079033.4:n.1647+2T>C
XM_005266105.3:c.1638+2T>C	XP_005266162.1:n.1638+2T>C
XM_005266110.1:c.1554+2T>C	XP_005266167.1:n.1554+2T>C
XM_006717288.2:c.1629+2T>C	XP_006717351.1:n.1629+2T>C
XM_011519021.1:c.1656+2T>C	XP_011517323.1:n.1656+2T>C
XM_011519022.1:c.1653+2T>C	XP_011517324.1:n.1653+2T>C
XM_011519023.1:c.1635+2T>C	XP_011517325.1:n.1635+2T>C
XM_011519024.1:c.1578+2T>C	XP_011517326.1:n.1578+2T>C
XM_011519025.1:c.1554+2T>C	XP_011517327.1:n.1554+2T>C
XM_011519026.1:c.1656+2T>C	XP_011517328.1:n.1656+2T>C
XM_011519027.1:c.1656+2T>C	XP_011517329.1:n.1656+2T>C
XM_011519028.1:c.1656+2T>C	XP_011517330.1:n.1656+2T>C
XM_011519029.1:c.78+2T>C	XP_011517331.1:n.78+2T>C
XM_011519033.1:c.1635+2T>C	XP_011517335.1:n.1635+2T>C
NM_001354259.1:c.1554+2T>C	NP_001341188.1:n.1554+2T>C
NM_001354263.1:c.1626+2T>C	NP_001341192.1:n.1626+2T>C
NM_001354611.1:c.1649T>C	NP_001341540.1:p.Val550Ala
NM_001354612.1:c.1556T>C	NP_001341541.1:p.Val519Ala
XM_005266105.5:c.1638+2T>C	XP_005266162.1:n.1638+2T>C
XM_011519021.3:c.1656+2T>C	XP_011517323.1:n.1656+2T>C
XM_011519022.3:c.1653+2T>C	XP_011517324.1:n.1653+2T>C
XM_011519023.3:c.1635+2T>C	XP_011517325.1:n.1635+2T>C
XM_011519029.3:c.78+2T>C	XP_011517331.1:n.78+2T>C
XM_017015134.1:c.1632+2T>C	XP_016870623.1:n.1632+2T>C
XM_017015136.2:c.1548+2T>C	XP_016870625.1:n.1548+2T>C
XM_017015137.1:c.1533+2T>C	XP_016870626.1:n.1533+2T>C
XM_017015138.1:c.1533+2T>C	XP_016870627.1:n.1533+2T>C
XM_024447674.1:c.1476+2T>C	XP_024303442.1:n.1476+2T>C
XM_024447675.1:c.1554+2T>C	XP_024303443.1:n.1554+2T>C
XM_024447676.1:c.771+2T>C	XP_024303444.1:n.771+2T>C
XM_024447677.1:c.771+2T>C	XP_024303445.1:n.771+2T>C
XM_024447678.1:c.1554+2T>C	XP_024303446.1:n.1554+2T>C
XM_024447679.1:c.1554+2T>C	XP_024303447.1:n.1554+2T>C
XM_024447680.1:c.1533+2T>C	XP_024303448.1:n.1533+2T>C
NM_024757.5:c.1647+2T>C MANE Select	NP_079033.4:n.1647+2T>C
NM_001145527.2:c.1647+2T>C	NP_001138999.1:n.1647+2T>C
NM_001354259.2:c.1554+2T>C	NP_001341188.1:n.1554+2T>C
NM_001354263.2:c.1626+2T>C	NP_001341192.1:n.1626+2T>C
NM_001354611.2:c.1649T>C	NP_001341540.1:p.Val550Ala
NM_001354612.2:c.1556T>C	NP_001341541.1:p.Val519Ala