Canonical Allele Identifier: CA375769032

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140657186A>C (hg19) ; chr9:g.137762734A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762734A>C , CM000671.2:g.137762734A>C	GRCh38
NC_000009.11:g.140657186A>C , CM000671.1:g.140657186A>C	GRCh37
NC_000009.10:g.139777007A>C	NCBI36
NG_011776.1:g.148743A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1561A>C MANE Select	ENSP00000417980.1:p.Ser521Arg
ENST00000629335.2:c.1561A>C	ENSP00000490056.1:p.Ser521Arg
ENST00000636027.1:c.1447A>C	ENSP00000489961.1:p.Ser483Arg
ENST00000637161.1:c.1468A>C	ENSP00000490328.1:p.Ser490Arg
ENST00000637261.1:c.1601A>C	ENSP00000490815.1:n.1601A>C
ENST00000637977.1:c.1506A>C
ENST00000638071.1:c.1188A>C
ENST00000640639.1:c.730A>C	ENSP00000491823.1:p.Ser244Arg
ENST00000371394.6:c.*1296A>C	ENSP00000485945.1:n.*1296A>C
ENST00000460843.5:c.1561A>C	ENSP00000417980.1:p.Ser521Arg
ENST00000462484.5:c.1561A>C	ENSP00000417328.1:p.Ser521Arg
ENST00000462942.3:c.418A>C	ENSP00000436107.1:p.Ser140Arg
ENST00000465566.2:c.253A>C	ENSP00000486261.1:p.Ser85Arg
ENST00000629808.2:c.654A>C
NM_001145527.1:c.1561A>C	NP_001138999.1:p.Ser521Arg
NM_024757.4:c.1561A>C	NP_079033.4:p.Ser521Arg
XM_005266105.3:c.1552A>C	XP_005266162.1:p.Ser518Arg
XM_005266110.1:c.1468A>C	XP_005266167.1:p.Ser490Arg
XM_006717288.2:c.1543A>C	XP_006717351.1:p.Ser515Arg
XM_011519021.1:c.1570A>C	XP_011517323.1:p.Ser524Arg
XM_011519022.1:c.1567A>C	XP_011517324.1:p.Ser523Arg
XM_011519023.1:c.1549A>C	XP_011517325.1:p.Ser517Arg
XM_011519024.1:c.1492A>C	XP_011517326.1:p.Ser498Arg
XM_011519025.1:c.1468A>C	XP_011517327.1:p.Ser490Arg
XM_011519026.1:c.1570A>C	XP_011517328.1:p.Ser524Arg
XM_011519027.1:c.1570A>C	XP_011517329.1:p.Ser524Arg
XM_011519028.1:c.1570A>C	XP_011517330.1:p.Ser524Arg
XM_011519029.1:c.-9A>C	XP_011517331.1:n.-9A>C
XM_011519033.1:c.1549A>C	XP_011517335.1:p.Ser517Arg
NM_001354259.1:c.1468A>C	NP_001341188.1:p.Ser490Arg
NM_001354263.1:c.1540A>C	NP_001341192.1:p.Ser514Arg
NM_001354611.1:c.1561A>C	NP_001341540.1:p.Ser521Arg
NM_001354612.1:c.1468A>C	NP_001341541.1:p.Ser490Arg
XM_005266105.5:c.1552A>C	XP_005266162.1:p.Ser518Arg
XM_011519021.3:c.1570A>C	XP_011517323.1:p.Ser524Arg
XM_011519022.3:c.1567A>C	XP_011517324.1:p.Ser523Arg
XM_011519023.3:c.1549A>C	XP_011517325.1:p.Ser517Arg
XM_011519029.3:c.-9A>C	XP_011517331.1:n.-9A>C
XM_017015134.1:c.1546A>C	XP_016870623.1:p.Ser516Arg
XM_017015136.2:c.1462A>C	XP_016870625.1:p.Ser488Arg
XM_017015137.1:c.1447A>C	XP_016870626.1:p.Ser483Arg
XM_017015138.1:c.1447A>C	XP_016870627.1:p.Ser483Arg
XM_024447674.1:c.1390A>C	XP_024303442.1:p.Ser464Arg
XM_024447675.1:c.1468A>C	XP_024303443.1:p.Ser490Arg
XM_024447676.1:c.685A>C	XP_024303444.1:p.Ser229Arg
XM_024447677.1:c.685A>C	XP_024303445.1:p.Ser229Arg
XM_024447678.1:c.1468A>C	XP_024303446.1:p.Ser490Arg
XM_024447679.1:c.1468A>C	XP_024303447.1:p.Ser490Arg
XM_024447680.1:c.1447A>C	XP_024303448.1:p.Ser483Arg
NM_024757.5:c.1561A>C MANE Select	NP_079033.4:p.Ser521Arg
NM_001145527.2:c.1561A>C	NP_001138999.1:p.Ser521Arg
NM_001354259.2:c.1468A>C	NP_001341188.1:p.Ser490Arg
NM_001354263.2:c.1540A>C	NP_001341192.1:p.Ser514Arg
NM_001354611.2:c.1561A>C	NP_001341540.1:p.Ser521Arg
NM_001354612.2:c.1468A>C	NP_001341541.1:p.Ser490Arg