Canonical Allele Identifier: CA375766490

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140652446T>A (hg19) ; chr9:g.137757994T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137757994T>A , CM000671.2:g.137757994T>A	GRCh38
NC_000009.11:g.140652446T>A , CM000671.1:g.140652446T>A	GRCh37
NC_000009.10:g.139772267T>A	NCBI36
NG_011776.1:g.144003T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1484T>A MANE Select	ENSP00000417980.1:p.Leu495Gln
ENST00000629335.2:c.1484T>A	ENSP00000490056.1:p.Leu495Gln
ENST00000636027.1:c.1370T>A	ENSP00000489961.1:p.Leu457Gln
ENST00000637161.1:c.1391T>A	ENSP00000490328.1:p.Leu464Gln
ENST00000637261.1:c.1524T>A	ENSP00000490815.1:n.1524T>A
ENST00000637977.1:c.1429T>A
ENST00000638071.1:c.1111T>A
ENST00000640639.1:c.653T>A	ENSP00000491823.1:p.Leu218Gln
ENST00000371394.6:c.*1219T>A	ENSP00000485945.1:n.*1219T>A
ENST00000460843.5:c.1484T>A	ENSP00000417980.1:p.Leu495Gln
ENST00000462484.5:c.1484T>A	ENSP00000417328.1:p.Leu495Gln
ENST00000462942.3:c.341T>A	ENSP00000436107.1:p.Leu114Gln
ENST00000465566.2:c.176T>A	ENSP00000486261.1:p.Leu59Gln
ENST00000629808.2:c.577T>A
NM_001145527.1:c.1484T>A	NP_001138999.1:p.Leu495Gln
NM_024757.4:c.1484T>A	NP_079033.4:p.Leu495Gln
XM_005266105.3:c.1475T>A	XP_005266162.1:p.Leu492Gln
XM_005266110.1:c.1391T>A	XP_005266167.1:p.Leu464Gln
XM_006717288.2:c.1466T>A	XP_006717351.1:p.Leu489Gln
XM_011519021.1:c.1493T>A	XP_011517323.1:p.Leu498Gln
XM_011519022.1:c.1490T>A	XP_011517324.1:p.Leu497Gln
XM_011519023.1:c.1472T>A	XP_011517325.1:p.Leu491Gln
XM_011519024.1:c.1415T>A	XP_011517326.1:p.Leu472Gln
XM_011519025.1:c.1391T>A	XP_011517327.1:p.Leu464Gln
XM_011519026.1:c.1493T>A	XP_011517328.1:p.Leu498Gln
XM_011519027.1:c.1493T>A	XP_011517329.1:p.Leu498Gln
XM_011519028.1:c.1493T>A	XP_011517330.1:p.Leu498Gln
XM_011519033.1:c.1472T>A	XP_011517335.1:p.Leu491Gln
NM_001354259.1:c.1391T>A	NP_001341188.1:p.Leu464Gln
NM_001354263.1:c.1463T>A	NP_001341192.1:p.Leu488Gln
NM_001354611.1:c.1484T>A	NP_001341540.1:p.Leu495Gln
NM_001354612.1:c.1391T>A	NP_001341541.1:p.Leu464Gln
XM_005266105.5:c.1475T>A	XP_005266162.1:p.Leu492Gln
XM_011519021.3:c.1493T>A	XP_011517323.1:p.Leu498Gln
XM_011519022.3:c.1490T>A	XP_011517324.1:p.Leu497Gln
XM_011519023.3:c.1472T>A	XP_011517325.1:p.Leu491Gln
XM_017015134.1:c.1469T>A	XP_016870623.1:p.Leu490Gln
XM_017015136.2:c.1385T>A	XP_016870625.1:p.Leu462Gln
XM_017015137.1:c.1370T>A	XP_016870626.1:p.Leu457Gln
XM_017015138.1:c.1370T>A	XP_016870627.1:p.Leu457Gln
XM_024447674.1:c.1313T>A	XP_024303442.1:p.Leu438Gln
XM_024447675.1:c.1391T>A	XP_024303443.1:p.Leu464Gln
XM_024447676.1:c.608T>A	XP_024303444.1:p.Leu203Gln
XM_024447677.1:c.608T>A	XP_024303445.1:p.Leu203Gln
XM_024447678.1:c.1391T>A	XP_024303446.1:p.Leu464Gln
XM_024447679.1:c.1391T>A	XP_024303447.1:p.Leu464Gln
XM_024447680.1:c.1370T>A	XP_024303448.1:p.Leu457Gln
NM_024757.5:c.1484T>A MANE Select	NP_079033.4:p.Leu495Gln
NM_001145527.2:c.1484T>A	NP_001138999.1:p.Leu495Gln
NM_001354259.2:c.1391T>A	NP_001341188.1:p.Leu464Gln
NM_001354263.2:c.1463T>A	NP_001341192.1:p.Leu488Gln
NM_001354611.2:c.1484T>A	NP_001341540.1:p.Leu495Gln
NM_001354612.2:c.1391T>A	NP_001341541.1:p.Leu464Gln