Canonical Allele Identifier: CA375776924
Gene: EHMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137776813C>G , CM000671.2:g.137776813C>G GRCh38
NC_000009.11:g.140671265C>G , CM000671.1:g.140671265C>G GRCh37
NC_000009.10:g.139791086C>G NCBI36
NG_011776.1:g.162822C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000460843.6:c.1987C>G MANE Select ENSP00000417980.1:p.Leu663Val
ENST00000636027.1:c.1873C>G ENSP00000489961.1:p.Leu625Val
ENST00000637161.1:c.1894C>G ENSP00000490328.1:p.Leu632Val
ENST00000637261.1:c.2027C>G ENSP00000490815.1:n.2027C>G
ENST00000638071.1:c.1614C>G
ENST00000640639.1:c.1156C>G ENSP00000491823.1:p.Leu386Val
ENST00000371394.6:c.*1722C>G ENSP00000485945.1:n.*1722C>G
ENST00000460843.5:c.1987C>G ENSP00000417980.1:p.Leu663Val
ENST00000462484.5:c.1987C>G ENSP00000417328.1:p.Leu663Val
ENST00000462942.3:c.844C>G ENSP00000436107.1:p.Leu282Val
ENST00000626603.1:n.1636G>C
NM_001145527.1:c.1987C>G NP_001138999.1:p.Leu663Val
NM_024757.4:c.1987C>G NP_079033.4:p.Leu663Val
XM_005266105.3:c.1978C>G XP_005266162.1:p.Leu660Val
XM_005266110.1:c.1894C>G XP_005266167.1:p.Leu632Val
XM_006717288.2:c.1969C>G XP_006717351.1:p.Leu657Val
XM_011519021.1:c.1996C>G XP_011517323.1:p.Leu666Val
XM_011519022.1:c.1993C>G XP_011517324.1:p.Leu665Val
XM_011519023.1:c.1975C>G XP_011517325.1:p.Leu659Val
XM_011519024.1:c.1918C>G XP_011517326.1:p.Leu640Val
XM_011519025.1:c.1894C>G XP_011517327.1:p.Leu632Val
XM_011519026.1:c.1852C>G XP_011517328.1:p.Leu618Val
XM_011519027.1:c.1996C>G XP_011517329.1:p.Leu666Val
XM_011519028.1:c.1996C>G XP_011517330.1:p.Leu666Val
XM_011519029.1:c.418C>G XP_011517331.1:p.Leu140Val
XM_011519033.1:c.1831C>G XP_011517335.1:p.Leu611Val
NM_001354259.1:c.1894C>G NP_001341188.1:p.Leu632Val
NM_001354263.1:c.1966C>G NP_001341192.1:p.Leu656Val
XM_005266105.5:c.1978C>G XP_005266162.1:p.Leu660Val
XM_011519021.3:c.1996C>G XP_011517323.1:p.Leu666Val
XM_011519022.3:c.1993C>G XP_011517324.1:p.Leu665Val
XM_011519023.3:c.1975C>G XP_011517325.1:p.Leu659Val
XM_011519029.3:c.418C>G XP_011517331.1:p.Leu140Val
XM_017015134.1:c.1972C>G XP_016870623.1:p.Leu658Val
XM_017015136.2:c.1888C>G XP_016870625.1:p.Leu630Val
XM_017015137.1:c.1873C>G XP_016870626.1:p.Leu625Val
XM_017015138.1:c.1873C>G XP_016870627.1:p.Leu625Val
XM_024447674.1:c.1816C>G XP_024303442.1:p.Leu606Val
XM_024447675.1:c.1750C>G XP_024303443.1:p.Leu584Val
XM_024447676.1:c.1111C>G XP_024303444.1:p.Leu371Val
XM_024447677.1:c.1111C>G XP_024303445.1:p.Leu371Val
XM_024447678.1:c.1894C>G XP_024303446.1:p.Leu632Val
XM_024447679.1:c.1894C>G XP_024303447.1:p.Leu632Val
XM_024447680.1:c.1729C>G XP_024303448.1:p.Leu577Val
NM_024757.5:c.1987C>G MANE Select NP_079033.4:p.Leu663Val
NM_001145527.2:c.1987C>G NP_001138999.1:p.Leu663Val
NM_001354259.2:c.1894C>G NP_001341188.1:p.Leu632Val
NM_001354263.2:c.1966C>G NP_001341192.1:p.Leu656Val