Canonical Allele Identifier: CA467873915

Gene: EHMT1

Linked Data

• MyVariant Identifiers: chr9:g.140657230G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137762778G>T , CM000671.2:g.137762778G>T	GRCh38
NC_000009.11:g.140657230G>T , CM000671.1:g.140657230G>T	GRCh37
NC_000009.10:g.139777051G>T	NCBI36
NG_011776.1:g.148787G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1605G>T MANE Select	ENSP00000417980.1:p.Leu535=
ENST00000629335.2:c.1605G>T	ENSP00000490056.1:p.Leu535=
ENST00000636027.1:c.1491G>T	ENSP00000489961.1:p.Leu497=
ENST00000637161.1:c.1512G>T	ENSP00000490328.1:p.Leu504=
ENST00000637261.1:c.1645G>T	ENSP00000490815.1:n.1645G>T
ENST00000637977.1:c.1550G>T
ENST00000638071.1:c.1232G>T
ENST00000640639.1:c.774G>T	ENSP00000491823.1:p.Leu258=
ENST00000371394.6:c.*1340G>T	ENSP00000485945.1:n.*1340G>T
ENST00000460843.5:c.1605G>T	ENSP00000417980.1:p.Leu535=
ENST00000462484.5:c.1605G>T	ENSP00000417328.1:p.Leu535=
ENST00000462942.3:c.462G>T	ENSP00000436107.1:p.Leu154=
ENST00000465566.2:c.297G>T	ENSP00000486261.1:p.Leu99=
NM_001145527.1:c.1605G>T	NP_001138999.1:p.Leu535=
NM_024757.4:c.1605G>T	NP_079033.4:p.Leu535=
XM_005266105.3:c.1596G>T	XP_005266162.1:p.Leu532=
XM_005266110.1:c.1512G>T	XP_005266167.1:p.Leu504=
XM_006717288.2:c.1587G>T	XP_006717351.1:p.Leu529=
XM_011519021.1:c.1614G>T	XP_011517323.1:p.Leu538=
XM_011519022.1:c.1611G>T	XP_011517324.1:p.Leu537=
XM_011519023.1:c.1593G>T	XP_011517325.1:p.Leu531=
XM_011519024.1:c.1536G>T	XP_011517326.1:p.Leu512=
XM_011519025.1:c.1512G>T	XP_011517327.1:p.Leu504=
XM_011519026.1:c.1614G>T	XP_011517328.1:p.Leu538=
XM_011519027.1:c.1614G>T	XP_011517329.1:p.Leu538=
XM_011519028.1:c.1614G>T	XP_011517330.1:p.Leu538=
XM_011519029.1:c.36G>T	XP_011517331.1:p.Leu12=
XM_011519033.1:c.1593G>T	XP_011517335.1:p.Leu531=
NM_001354259.1:c.1512G>T	NP_001341188.1:p.Leu504=
NM_001354263.1:c.1584G>T	NP_001341192.1:p.Leu528=
NM_001354611.1:c.1605G>T	NP_001341540.1:p.Leu535=
NM_001354612.1:c.1512G>T	NP_001341541.1:p.Leu504=
XM_005266105.5:c.1596G>T	XP_005266162.1:p.Leu532=
XM_011519021.3:c.1614G>T	XP_011517323.1:p.Leu538=
XM_011519022.3:c.1611G>T	XP_011517324.1:p.Leu537=
XM_011519023.3:c.1593G>T	XP_011517325.1:p.Leu531=
XM_011519029.3:c.36G>T	XP_011517331.1:p.Leu12=
XM_017015134.1:c.1590G>T	XP_016870623.1:p.Leu530=
XM_017015136.2:c.1506G>T	XP_016870625.1:p.Leu502=
XM_017015137.1:c.1491G>T	XP_016870626.1:p.Leu497=
XM_017015138.1:c.1491G>T	XP_016870627.1:p.Leu497=
XM_024447674.1:c.1434G>T	XP_024303442.1:p.Leu478=
XM_024447675.1:c.1512G>T	XP_024303443.1:p.Leu504=
XM_024447676.1:c.729G>T	XP_024303444.1:p.Leu243=
XM_024447677.1:c.729G>T	XP_024303445.1:p.Leu243=
XM_024447678.1:c.1512G>T	XP_024303446.1:p.Leu504=
XM_024447679.1:c.1512G>T	XP_024303447.1:p.Leu504=
XM_024447680.1:c.1491G>T	XP_024303448.1:p.Leu497=
NM_024757.5:c.1605G>T MANE Select	NP_079033.4:p.Leu535=
NM_001145527.2:c.1605G>T	NP_001138999.1:p.Leu535=
NM_001354259.2:c.1512G>T	NP_001341188.1:p.Leu504=
NM_001354263.2:c.1584G>T	NP_001341192.1:p.Leu528=
NM_001354611.2:c.1605G>T	NP_001341540.1:p.Leu535=
NM_001354612.2:c.1512G>T	NP_001341541.1:p.Leu504=