Canonical Allele Identifier: CA375768965

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 802551
• ClinVar RCV Id: RCV000988315
• dbSNP Id: rs1287556019
• MyVariant Identifiers: chr9:g.140657178C>G (hg19) ; chr9:g.137762726C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762726C>G , CM000671.2:g.137762726C>G	GRCh38
NC_000009.11:g.140657178C>G , CM000671.1:g.140657178C>G	GRCh37
NC_000009.10:g.139776999C>G	NCBI36
NG_011776.1:g.148735C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1553C>G MANE Select	ENSP00000417980.1:p.Pro518Arg
ENST00000629335.2:c.1553C>G	ENSP00000490056.1:p.Pro518Arg
ENST00000636027.1:c.1439C>G	ENSP00000489961.1:p.Pro480Arg
ENST00000637161.1:c.1460C>G	ENSP00000490328.1:p.Pro487Arg
ENST00000637261.1:c.1593C>G	ENSP00000490815.1:n.1593C>G
ENST00000637977.1:c.1498C>G
ENST00000638071.1:c.1180C>G
ENST00000640639.1:c.722C>G	ENSP00000491823.1:p.Pro241Arg
ENST00000371394.6:c.*1288C>G	ENSP00000485945.1:n.*1288C>G
ENST00000460843.5:c.1553C>G	ENSP00000417980.1:p.Pro518Arg
ENST00000462484.5:c.1553C>G	ENSP00000417328.1:p.Pro518Arg
ENST00000462942.3:c.410C>G	ENSP00000436107.1:p.Pro137Arg
ENST00000465566.2:c.245C>G	ENSP00000486261.1:p.Pro82Arg
ENST00000629808.2:c.646C>G
NM_001145527.1:c.1553C>G	NP_001138999.1:p.Pro518Arg
NM_024757.4:c.1553C>G	NP_079033.4:p.Pro518Arg
XM_005266105.3:c.1544C>G	XP_005266162.1:p.Pro515Arg
XM_005266110.1:c.1460C>G	XP_005266167.1:p.Pro487Arg
XM_006717288.2:c.1535C>G	XP_006717351.1:p.Pro512Arg
XM_011519021.1:c.1562C>G	XP_011517323.1:p.Pro521Arg
XM_011519022.1:c.1559C>G	XP_011517324.1:p.Pro520Arg
XM_011519023.1:c.1541C>G	XP_011517325.1:p.Pro514Arg
XM_011519024.1:c.1484C>G	XP_011517326.1:p.Pro495Arg
XM_011519025.1:c.1460C>G	XP_011517327.1:p.Pro487Arg
XM_011519026.1:c.1562C>G	XP_011517328.1:p.Pro521Arg
XM_011519027.1:c.1562C>G	XP_011517329.1:p.Pro521Arg
XM_011519028.1:c.1562C>G	XP_011517330.1:p.Pro521Arg
XM_011519029.1:c.-17C>G	XP_011517331.1:n.-17C>G
XM_011519033.1:c.1541C>G	XP_011517335.1:p.Pro514Arg
NM_001354259.1:c.1460C>G	NP_001341188.1:p.Pro487Arg
NM_001354263.1:c.1532C>G	NP_001341192.1:p.Pro511Arg
NM_001354611.1:c.1553C>G	NP_001341540.1:p.Pro518Arg
NM_001354612.1:c.1460C>G	NP_001341541.1:p.Pro487Arg
XM_005266105.5:c.1544C>G	XP_005266162.1:p.Pro515Arg
XM_011519021.3:c.1562C>G	XP_011517323.1:p.Pro521Arg
XM_011519022.3:c.1559C>G	XP_011517324.1:p.Pro520Arg
XM_011519023.3:c.1541C>G	XP_011517325.1:p.Pro514Arg
XM_011519029.3:c.-17C>G	XP_011517331.1:n.-17C>G
XM_017015134.1:c.1538C>G	XP_016870623.1:p.Pro513Arg
XM_017015136.2:c.1454C>G	XP_016870625.1:p.Pro485Arg
XM_017015137.1:c.1439C>G	XP_016870626.1:p.Pro480Arg
XM_017015138.1:c.1439C>G	XP_016870627.1:p.Pro480Arg
XM_024447674.1:c.1382C>G	XP_024303442.1:p.Pro461Arg
XM_024447675.1:c.1460C>G	XP_024303443.1:p.Pro487Arg
XM_024447676.1:c.677C>G	XP_024303444.1:p.Pro226Arg
XM_024447677.1:c.677C>G	XP_024303445.1:p.Pro226Arg
XM_024447678.1:c.1460C>G	XP_024303446.1:p.Pro487Arg
XM_024447679.1:c.1460C>G	XP_024303447.1:p.Pro487Arg
XM_024447680.1:c.1439C>G	XP_024303448.1:p.Pro480Arg
NM_024757.5:c.1553C>G MANE Select	NP_079033.4:p.Pro518Arg
NM_001145527.2:c.1553C>G	NP_001138999.1:p.Pro518Arg
NM_001354259.2:c.1460C>G	NP_001341188.1:p.Pro487Arg
NM_001354263.2:c.1532C>G	NP_001341192.1:p.Pro511Arg
NM_001354611.2:c.1553C>G	NP_001341540.1:p.Pro518Arg
NM_001354612.2:c.1460C>G	NP_001341541.1:p.Pro487Arg