Canonical Allele Identifier: CA375769036

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140657187G>C (hg19) ; chr9:g.137762735G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762735G>C , CM000671.2:g.137762735G>C	GRCh38
NC_000009.11:g.140657187G>C , CM000671.1:g.140657187G>C	GRCh37
NC_000009.10:g.139777008G>C	NCBI36
NG_011776.1:g.148744G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1562G>C MANE Select	ENSP00000417980.1:p.Ser521Thr
ENST00000629335.2:c.1562G>C	ENSP00000490056.1:p.Ser521Thr
ENST00000636027.1:c.1448G>C	ENSP00000489961.1:p.Ser483Thr
ENST00000637161.1:c.1469G>C	ENSP00000490328.1:p.Ser490Thr
ENST00000637261.1:c.1602G>C	ENSP00000490815.1:n.1602G>C
ENST00000637977.1:c.1507G>C
ENST00000638071.1:c.1189G>C
ENST00000640639.1:c.731G>C	ENSP00000491823.1:p.Ser244Thr
ENST00000371394.6:c.*1297G>C	ENSP00000485945.1:n.*1297G>C
ENST00000460843.5:c.1562G>C	ENSP00000417980.1:p.Ser521Thr
ENST00000462484.5:c.1562G>C	ENSP00000417328.1:p.Ser521Thr
ENST00000462942.3:c.419G>C	ENSP00000436107.1:p.Ser140Thr
ENST00000465566.2:c.254G>C	ENSP00000486261.1:p.Ser85Thr
ENST00000629808.2:c.655G>C
NM_001145527.1:c.1562G>C	NP_001138999.1:p.Ser521Thr
NM_024757.4:c.1562G>C	NP_079033.4:p.Ser521Thr
XM_005266105.3:c.1553G>C	XP_005266162.1:p.Ser518Thr
XM_005266110.1:c.1469G>C	XP_005266167.1:p.Ser490Thr
XM_006717288.2:c.1544G>C	XP_006717351.1:p.Ser515Thr
XM_011519021.1:c.1571G>C	XP_011517323.1:p.Ser524Thr
XM_011519022.1:c.1568G>C	XP_011517324.1:p.Ser523Thr
XM_011519023.1:c.1550G>C	XP_011517325.1:p.Ser517Thr
XM_011519024.1:c.1493G>C	XP_011517326.1:p.Ser498Thr
XM_011519025.1:c.1469G>C	XP_011517327.1:p.Ser490Thr
XM_011519026.1:c.1571G>C	XP_011517328.1:p.Ser524Thr
XM_011519027.1:c.1571G>C	XP_011517329.1:p.Ser524Thr
XM_011519028.1:c.1571G>C	XP_011517330.1:p.Ser524Thr
XM_011519029.1:c.-8G>C	XP_011517331.1:n.-8G>C
XM_011519033.1:c.1550G>C	XP_011517335.1:p.Ser517Thr
NM_001354259.1:c.1469G>C	NP_001341188.1:p.Ser490Thr
NM_001354263.1:c.1541G>C	NP_001341192.1:p.Ser514Thr
NM_001354611.1:c.1562G>C	NP_001341540.1:p.Ser521Thr
NM_001354612.1:c.1469G>C	NP_001341541.1:p.Ser490Thr
XM_005266105.5:c.1553G>C	XP_005266162.1:p.Ser518Thr
XM_011519021.3:c.1571G>C	XP_011517323.1:p.Ser524Thr
XM_011519022.3:c.1568G>C	XP_011517324.1:p.Ser523Thr
XM_011519023.3:c.1550G>C	XP_011517325.1:p.Ser517Thr
XM_011519029.3:c.-8G>C	XP_011517331.1:n.-8G>C
XM_017015134.1:c.1547G>C	XP_016870623.1:p.Ser516Thr
XM_017015136.2:c.1463G>C	XP_016870625.1:p.Ser488Thr
XM_017015137.1:c.1448G>C	XP_016870626.1:p.Ser483Thr
XM_017015138.1:c.1448G>C	XP_016870627.1:p.Ser483Thr
XM_024447674.1:c.1391G>C	XP_024303442.1:p.Ser464Thr
XM_024447675.1:c.1469G>C	XP_024303443.1:p.Ser490Thr
XM_024447676.1:c.686G>C	XP_024303444.1:p.Ser229Thr
XM_024447677.1:c.686G>C	XP_024303445.1:p.Ser229Thr
XM_024447678.1:c.1469G>C	XP_024303446.1:p.Ser490Thr
XM_024447679.1:c.1469G>C	XP_024303447.1:p.Ser490Thr
XM_024447680.1:c.1448G>C	XP_024303448.1:p.Ser483Thr
NM_024757.5:c.1562G>C MANE Select	NP_079033.4:p.Ser521Thr
NM_001145527.2:c.1562G>C	NP_001138999.1:p.Ser521Thr
NM_001354259.2:c.1469G>C	NP_001341188.1:p.Ser490Thr
NM_001354263.2:c.1541G>C	NP_001341192.1:p.Ser514Thr
NM_001354611.2:c.1562G>C	NP_001341540.1:p.Ser521Thr
NM_001354612.2:c.1469G>C	NP_001341541.1:p.Ser490Thr