Canonical Allele Identifier: CA5374741

Gene: EHMT1

Linked Data

• ClinVar Variation Id: 567822
• ClinVar RCV Id: RCV000688004
• dbSNP Id: rs373640528
• ExAC: 9:140671092 C / T
• gnomAD v2: 9-140671092-C-T
• gnomAD v3: 9-137776640-C-T
• gnomAD v4: 9-137776640-C-T
• MyVariant Identifiers: chr9:g.140671092C>T (hg19) ; chr9:g.137776640C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776640C>T , CM000671.2:g.137776640C>T	GRCh38
NC_000009.11:g.140671092C>T , CM000671.1:g.140671092C>T	GRCh37
NC_000009.10:g.139790913C>T	NCBI36
NG_011776.1:g.162649C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1814C>T MANE Select	ENSP00000417980.1:p.Pro605Leu
ENST00000636027.1:c.1700C>T	ENSP00000489961.1:p.Pro567Leu
ENST00000637161.1:c.1721C>T	ENSP00000490328.1:p.Pro574Leu
ENST00000637261.1:c.1854C>T	ENSP00000490815.1:n.1854C>T
ENST00000638071.1:c.1441C>T
ENST00000640639.1:c.983C>T	ENSP00000491823.1:p.Pro328Leu
ENST00000371394.6:c.*1549C>T	ENSP00000485945.1:n.*1549C>T
ENST00000460843.5:c.1814C>T	ENSP00000417980.1:p.Pro605Leu
ENST00000462484.5:c.1814C>T	ENSP00000417328.1:p.Pro605Leu
ENST00000462942.3:c.671C>T	ENSP00000436107.1:p.Pro224Leu
ENST00000465566.2:c.362C>T	ENSP00000486261.1:p.Pro121Leu
ENST00000626603.1:n.1809G>A
NM_001145527.1:c.1814C>T	NP_001138999.1:p.Pro605Leu
NM_024757.4:c.1814C>T	NP_079033.4:p.Pro605Leu
XM_005266105.3:c.1805C>T	XP_005266162.1:p.Pro602Leu
XM_005266110.1:c.1721C>T	XP_005266167.1:p.Pro574Leu
XM_006717288.2:c.1796C>T	XP_006717351.1:p.Pro599Leu
XM_011519021.1:c.1823C>T	XP_011517323.1:p.Pro608Leu
XM_011519022.1:c.1820C>T	XP_011517324.1:p.Pro607Leu
XM_011519023.1:c.1802C>T	XP_011517325.1:p.Pro601Leu
XM_011519024.1:c.1745C>T	XP_011517326.1:p.Pro582Leu
XM_011519025.1:c.1721C>T	XP_011517327.1:p.Pro574Leu
XM_011519026.1:c.1679C>T	XP_011517328.1:p.Pro560Leu
XM_011519027.1:c.1823C>T	XP_011517329.1:p.Pro608Leu
XM_011519028.1:c.1823C>T	XP_011517330.1:p.Pro608Leu
XM_011519029.1:c.245C>T	XP_011517331.1:p.Pro82Leu
XM_011519033.1:c.1658C>T	XP_011517335.1:p.Pro553Leu
NM_001354259.1:c.1721C>T	NP_001341188.1:p.Pro574Leu
NM_001354263.1:c.1793C>T	NP_001341192.1:p.Pro598Leu
XM_005266105.5:c.1805C>T	XP_005266162.1:p.Pro602Leu
XM_011519021.3:c.1823C>T	XP_011517323.1:p.Pro608Leu
XM_011519022.3:c.1820C>T	XP_011517324.1:p.Pro607Leu
XM_011519023.3:c.1802C>T	XP_011517325.1:p.Pro601Leu
XM_011519029.3:c.245C>T	XP_011517331.1:p.Pro82Leu
XM_017015134.1:c.1799C>T	XP_016870623.1:p.Pro600Leu
XM_017015136.2:c.1715C>T	XP_016870625.1:p.Pro572Leu
XM_017015137.1:c.1700C>T	XP_016870626.1:p.Pro567Leu
XM_017015138.1:c.1700C>T	XP_016870627.1:p.Pro567Leu
XM_024447674.1:c.1643C>T	XP_024303442.1:p.Pro548Leu
XM_024447675.1:c.1577C>T	XP_024303443.1:p.Pro526Leu
XM_024447676.1:c.938C>T	XP_024303444.1:p.Pro313Leu
XM_024447677.1:c.938C>T	XP_024303445.1:p.Pro313Leu
XM_024447678.1:c.1721C>T	XP_024303446.1:p.Pro574Leu
XM_024447679.1:c.1721C>T	XP_024303447.1:p.Pro574Leu
XM_024447680.1:c.1556C>T	XP_024303448.1:p.Pro519Leu
NM_024757.5:c.1814C>T MANE Select	NP_079033.4:p.Pro605Leu
NM_001145527.2:c.1814C>T	NP_001138999.1:p.Pro605Leu
NM_001354259.2:c.1721C>T	NP_001341188.1:p.Pro574Leu
NM_001354263.2:c.1793C>T	NP_001341192.1:p.Pro598Leu