Canonical Allele Identifier: CA375769419

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140657220T>C (hg19) ; chr9:g.137762768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762768T>C , CM000671.2:g.137762768T>C	GRCh38
NC_000009.11:g.140657220T>C , CM000671.1:g.140657220T>C	GRCh37
NC_000009.10:g.139777041T>C	NCBI36
NG_011776.1:g.148777T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1595T>C MANE Select	ENSP00000417980.1:p.Ile532Thr
ENST00000629335.2:c.1595T>C	ENSP00000490056.1:p.Ile532Thr
ENST00000636027.1:c.1481T>C	ENSP00000489961.1:p.Ile494Thr
ENST00000637161.1:c.1502T>C	ENSP00000490328.1:p.Ile501Thr
ENST00000637261.1:c.1635T>C	ENSP00000490815.1:n.1635T>C
ENST00000637977.1:c.1540T>C
ENST00000638071.1:c.1222T>C
ENST00000640639.1:c.764T>C	ENSP00000491823.1:p.Ile255Thr
ENST00000371394.6:c.*1330T>C	ENSP00000485945.1:n.*1330T>C
ENST00000460843.5:c.1595T>C	ENSP00000417980.1:p.Ile532Thr
ENST00000462484.5:c.1595T>C	ENSP00000417328.1:p.Ile532Thr
ENST00000462942.3:c.452T>C	ENSP00000436107.1:p.Ile151Thr
ENST00000465566.2:c.287T>C	ENSP00000486261.1:p.Ile96Thr
ENST00000629808.2:c.688T>C
NM_001145527.1:c.1595T>C	NP_001138999.1:p.Ile532Thr
NM_024757.4:c.1595T>C	NP_079033.4:p.Ile532Thr
XM_005266105.3:c.1586T>C	XP_005266162.1:p.Ile529Thr
XM_005266110.1:c.1502T>C	XP_005266167.1:p.Ile501Thr
XM_006717288.2:c.1577T>C	XP_006717351.1:p.Ile526Thr
XM_011519021.1:c.1604T>C	XP_011517323.1:p.Ile535Thr
XM_011519022.1:c.1601T>C	XP_011517324.1:p.Ile534Thr
XM_011519023.1:c.1583T>C	XP_011517325.1:p.Ile528Thr
XM_011519024.1:c.1526T>C	XP_011517326.1:p.Ile509Thr
XM_011519025.1:c.1502T>C	XP_011517327.1:p.Ile501Thr
XM_011519026.1:c.1604T>C	XP_011517328.1:p.Ile535Thr
XM_011519027.1:c.1604T>C	XP_011517329.1:p.Ile535Thr
XM_011519028.1:c.1604T>C	XP_011517330.1:p.Ile535Thr
XM_011519029.1:c.26T>C	XP_011517331.1:p.Ile9Thr
XM_011519033.1:c.1583T>C	XP_011517335.1:p.Ile528Thr
NM_001354259.1:c.1502T>C	NP_001341188.1:p.Ile501Thr
NM_001354263.1:c.1574T>C	NP_001341192.1:p.Ile525Thr
NM_001354611.1:c.1595T>C	NP_001341540.1:p.Ile532Thr
NM_001354612.1:c.1502T>C	NP_001341541.1:p.Ile501Thr
XM_005266105.5:c.1586T>C	XP_005266162.1:p.Ile529Thr
XM_011519021.3:c.1604T>C	XP_011517323.1:p.Ile535Thr
XM_011519022.3:c.1601T>C	XP_011517324.1:p.Ile534Thr
XM_011519023.3:c.1583T>C	XP_011517325.1:p.Ile528Thr
XM_011519029.3:c.26T>C	XP_011517331.1:p.Ile9Thr
XM_017015134.1:c.1580T>C	XP_016870623.1:p.Ile527Thr
XM_017015136.2:c.1496T>C	XP_016870625.1:p.Ile499Thr
XM_017015137.1:c.1481T>C	XP_016870626.1:p.Ile494Thr
XM_017015138.1:c.1481T>C	XP_016870627.1:p.Ile494Thr
XM_024447674.1:c.1424T>C	XP_024303442.1:p.Ile475Thr
XM_024447675.1:c.1502T>C	XP_024303443.1:p.Ile501Thr
XM_024447676.1:c.719T>C	XP_024303444.1:p.Ile240Thr
XM_024447677.1:c.719T>C	XP_024303445.1:p.Ile240Thr
XM_024447678.1:c.1502T>C	XP_024303446.1:p.Ile501Thr
XM_024447679.1:c.1502T>C	XP_024303447.1:p.Ile501Thr
XM_024447680.1:c.1481T>C	XP_024303448.1:p.Ile494Thr
NM_024757.5:c.1595T>C MANE Select	NP_079033.4:p.Ile532Thr
NM_001145527.2:c.1595T>C	NP_001138999.1:p.Ile532Thr
NM_001354259.2:c.1502T>C	NP_001341188.1:p.Ile501Thr
NM_001354263.2:c.1574T>C	NP_001341192.1:p.Ile525Thr
NM_001354611.2:c.1595T>C	NP_001341540.1:p.Ile532Thr
NM_001354612.2:c.1502T>C	NP_001341541.1:p.Ile501Thr