Canonical Allele Identifier: CA375775631

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 862041
• ClinVar RCV Id: RCV001068684
• dbSNP Id: rs1175517635
• MyVariant Identifiers: chr9:g.140671091C>T (hg19) ; chr9:g.137776639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776639C>T , CM000671.2:g.137776639C>T	GRCh38
NC_000009.11:g.140671091C>T , CM000671.1:g.140671091C>T	GRCh37
NC_000009.10:g.139790912C>T	NCBI36
NG_011776.1:g.162648C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1813C>T MANE Select	ENSP00000417980.1:p.Pro605Ser
ENST00000636027.1:c.1699C>T	ENSP00000489961.1:p.Pro567Ser
ENST00000637161.1:c.1720C>T	ENSP00000490328.1:p.Pro574Ser
ENST00000637261.1:c.1853C>T	ENSP00000490815.1:n.1853C>T
ENST00000638071.1:c.1440C>T
ENST00000640639.1:c.982C>T	ENSP00000491823.1:p.Pro328Ser
ENST00000371394.6:c.*1548C>T	ENSP00000485945.1:n.*1548C>T
ENST00000460843.5:c.1813C>T	ENSP00000417980.1:p.Pro605Ser
ENST00000462484.5:c.1813C>T	ENSP00000417328.1:p.Pro605Ser
ENST00000462942.3:c.670C>T	ENSP00000436107.1:p.Pro224Ser
ENST00000465566.2:c.361C>T	ENSP00000486261.1:p.Pro121Ser
ENST00000626603.1:n.1810G>A
NM_001145527.1:c.1813C>T	NP_001138999.1:p.Pro605Ser
NM_024757.4:c.1813C>T	NP_079033.4:p.Pro605Ser
XM_005266105.3:c.1804C>T	XP_005266162.1:p.Pro602Ser
XM_005266110.1:c.1720C>T	XP_005266167.1:p.Pro574Ser
XM_006717288.2:c.1795C>T	XP_006717351.1:p.Pro599Ser
XM_011519021.1:c.1822C>T	XP_011517323.1:p.Pro608Ser
XM_011519022.1:c.1819C>T	XP_011517324.1:p.Pro607Ser
XM_011519023.1:c.1801C>T	XP_011517325.1:p.Pro601Ser
XM_011519024.1:c.1744C>T	XP_011517326.1:p.Pro582Ser
XM_011519025.1:c.1720C>T	XP_011517327.1:p.Pro574Ser
XM_011519026.1:c.1678C>T	XP_011517328.1:p.Pro560Ser
XM_011519027.1:c.1822C>T	XP_011517329.1:p.Pro608Ser
XM_011519028.1:c.1822C>T	XP_011517330.1:p.Pro608Ser
XM_011519029.1:c.244C>T	XP_011517331.1:p.Pro82Ser
XM_011519033.1:c.1657C>T	XP_011517335.1:p.Pro553Ser
NM_001354259.1:c.1720C>T	NP_001341188.1:p.Pro574Ser
NM_001354263.1:c.1792C>T	NP_001341192.1:p.Pro598Ser
XM_005266105.5:c.1804C>T	XP_005266162.1:p.Pro602Ser
XM_011519021.3:c.1822C>T	XP_011517323.1:p.Pro608Ser
XM_011519022.3:c.1819C>T	XP_011517324.1:p.Pro607Ser
XM_011519023.3:c.1801C>T	XP_011517325.1:p.Pro601Ser
XM_011519029.3:c.244C>T	XP_011517331.1:p.Pro82Ser
XM_017015134.1:c.1798C>T	XP_016870623.1:p.Pro600Ser
XM_017015136.2:c.1714C>T	XP_016870625.1:p.Pro572Ser
XM_017015137.1:c.1699C>T	XP_016870626.1:p.Pro567Ser
XM_017015138.1:c.1699C>T	XP_016870627.1:p.Pro567Ser
XM_024447674.1:c.1642C>T	XP_024303442.1:p.Pro548Ser
XM_024447675.1:c.1576C>T	XP_024303443.1:p.Pro526Ser
XM_024447676.1:c.937C>T	XP_024303444.1:p.Pro313Ser
XM_024447677.1:c.937C>T	XP_024303445.1:p.Pro313Ser
XM_024447678.1:c.1720C>T	XP_024303446.1:p.Pro574Ser
XM_024447679.1:c.1720C>T	XP_024303447.1:p.Pro574Ser
XM_024447680.1:c.1555C>T	XP_024303448.1:p.Pro519Ser
NM_024757.5:c.1813C>T MANE Select	NP_079033.4:p.Pro605Ser
NM_001145527.2:c.1813C>T	NP_001138999.1:p.Pro605Ser
NM_001354259.2:c.1720C>T	NP_001341188.1:p.Pro574Ser
NM_001354263.2:c.1792C>T	NP_001341192.1:p.Pro598Ser