Canonical Allele Identifier: CA375775704

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 1349919
• ClinVar RCV Id: RCV002051191
• dbSNP Id: rs2136683755
• MyVariant Identifiers: chr9:g.140671098G>C (hg19) ; chr9:g.137776646G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776646G>C , CM000671.2:g.137776646G>C	GRCh38
NC_000009.11:g.140671098G>C , CM000671.1:g.140671098G>C	GRCh37
NC_000009.10:g.139790919G>C	NCBI36
NG_011776.1:g.162655G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1820G>C MANE Select	ENSP00000417980.1:p.Ser607Thr
ENST00000636027.1:c.1706G>C	ENSP00000489961.1:p.Ser569Thr
ENST00000637161.1:c.1727G>C	ENSP00000490328.1:p.Ser576Thr
ENST00000637261.1:c.1860G>C	ENSP00000490815.1:n.1860G>C
ENST00000638071.1:c.1447G>C
ENST00000640639.1:c.989G>C	ENSP00000491823.1:p.Ser330Thr
ENST00000371394.6:c.*1555G>C	ENSP00000485945.1:n.*1555G>C
ENST00000460843.5:c.1820G>C	ENSP00000417980.1:p.Ser607Thr
ENST00000462484.5:c.1820G>C	ENSP00000417328.1:p.Ser607Thr
ENST00000462942.3:c.677G>C	ENSP00000436107.1:p.Ser226Thr
ENST00000465566.2:c.368G>C	ENSP00000486261.1:p.Ser123Thr
ENST00000626603.1:n.1803C>G
NM_001145527.1:c.1820G>C	NP_001138999.1:p.Ser607Thr
NM_024757.4:c.1820G>C	NP_079033.4:p.Ser607Thr
XM_005266105.3:c.1811G>C	XP_005266162.1:p.Ser604Thr
XM_005266110.1:c.1727G>C	XP_005266167.1:p.Ser576Thr
XM_006717288.2:c.1802G>C	XP_006717351.1:p.Ser601Thr
XM_011519021.1:c.1829G>C	XP_011517323.1:p.Ser610Thr
XM_011519022.1:c.1826G>C	XP_011517324.1:p.Ser609Thr
XM_011519023.1:c.1808G>C	XP_011517325.1:p.Ser603Thr
XM_011519024.1:c.1751G>C	XP_011517326.1:p.Ser584Thr
XM_011519025.1:c.1727G>C	XP_011517327.1:p.Ser576Thr
XM_011519026.1:c.1685G>C	XP_011517328.1:p.Ser562Thr
XM_011519027.1:c.1829G>C	XP_011517329.1:p.Ser610Thr
XM_011519028.1:c.1829G>C	XP_011517330.1:p.Ser610Thr
XM_011519029.1:c.251G>C	XP_011517331.1:p.Ser84Thr
XM_011519033.1:c.1664G>C	XP_011517335.1:p.Ser555Thr
NM_001354259.1:c.1727G>C	NP_001341188.1:p.Ser576Thr
NM_001354263.1:c.1799G>C	NP_001341192.1:p.Ser600Thr
XM_005266105.5:c.1811G>C	XP_005266162.1:p.Ser604Thr
XM_011519021.3:c.1829G>C	XP_011517323.1:p.Ser610Thr
XM_011519022.3:c.1826G>C	XP_011517324.1:p.Ser609Thr
XM_011519023.3:c.1808G>C	XP_011517325.1:p.Ser603Thr
XM_011519029.3:c.251G>C	XP_011517331.1:p.Ser84Thr
XM_017015134.1:c.1805G>C	XP_016870623.1:p.Ser602Thr
XM_017015136.2:c.1721G>C	XP_016870625.1:p.Ser574Thr
XM_017015137.1:c.1706G>C	XP_016870626.1:p.Ser569Thr
XM_017015138.1:c.1706G>C	XP_016870627.1:p.Ser569Thr
XM_024447674.1:c.1649G>C	XP_024303442.1:p.Ser550Thr
XM_024447675.1:c.1583G>C	XP_024303443.1:p.Ser528Thr
XM_024447676.1:c.944G>C	XP_024303444.1:p.Ser315Thr
XM_024447677.1:c.944G>C	XP_024303445.1:p.Ser315Thr
XM_024447678.1:c.1727G>C	XP_024303446.1:p.Ser576Thr
XM_024447679.1:c.1727G>C	XP_024303447.1:p.Ser576Thr
XM_024447680.1:c.1562G>C	XP_024303448.1:p.Ser521Thr
NM_024757.5:c.1820G>C MANE Select	NP_079033.4:p.Ser607Thr
NM_001145527.2:c.1820G>C	NP_001138999.1:p.Ser607Thr
NM_001354259.2:c.1727G>C	NP_001341188.1:p.Ser576Thr
NM_001354263.2:c.1799G>C	NP_001341192.1:p.Ser600Thr