Canonical Allele Identifier: CA375782236
Community Standard Title: NM_024757.5(EHMT1):c.3709C>T (p.Gln1237Ter)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137834517C>T , CM000671.2:g.137834517C>T GRCh38
NC_000009.11:g.140728969C>T , CM000671.1:g.140728969C>T GRCh37
NC_000009.10:g.139848790C>T NCBI36
NG_011776.1:g.220526C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3709C>T MANE Select NP_079033.4:p.Gln1237Ter
ENST00000460843.6:c.3709C>T MANE Select ENSP00000417980.1:p.Gln1237Ter
NM_001354263.1:c.3688C>T NP_001341192.1:p.Gln1230Ter
NM_001354263.2:c.3688C>T NP_001341192.1:p.Gln1230Ter
NM_024757.4:c.3709C>T NP_079033.4:p.Gln1237Ter
ENST00000460843.5:c.3709C>T ENSP00000417980.1:p.Gln1237Ter
ENST00000462942.3:c.2398-12043C>T ENSP00000436107.1:n.2398-12043C>T
ENST00000472849.1:n.481C>T
ENST00000475564.5:n.1433C>T
ENST00000475704.2:n.439C>T
ENST00000494249.5:n.1062C>T
ENST00000637161.1:c.3616C>T ENSP00000490328.1:p.Gln1206Ter
ENST00000637748.1:n.690C>T
ENST00000637891.1:c.1783C>T ENSP00000490907.1:n.1783C>T
XM_005266105.3:c.3700C>T XP_005266162.1:p.Gln1234Ter
XM_005266105.5:c.3700C>T XP_005266162.1:p.Gln1234Ter
XM_005266110.1:c.3616C>T XP_005266167.1:p.Gln1206Ter
XM_006717288.2:c.3691C>T XP_006717351.1:p.Gln1231Ter
XM_011519021.1:c.3718C>T XP_011517323.1:p.Gln1240Ter
XM_011519021.3:c.3718C>T XP_011517323.1:p.Gln1240Ter
XM_011519022.1:c.3715C>T XP_011517324.1:p.Gln1239Ter
XM_011519022.3:c.3715C>T XP_011517324.1:p.Gln1239Ter
XM_011519023.1:c.3697C>T XP_011517325.1:p.Gln1233Ter
XM_011519023.3:c.3697C>T XP_011517325.1:p.Gln1233Ter
XM_011519024.1:c.3640C>T XP_011517326.1:p.Gln1214Ter
XM_011519025.1:c.3616C>T XP_011517327.1:p.Gln1206Ter
XM_011519026.1:c.3574C>T XP_011517328.1:p.Gln1192Ter
XM_011519029.1:c.2140C>T XP_011517331.1:p.Gln714Ter
XM_011519029.3:c.2140C>T XP_011517331.1:p.Gln714Ter
XM_011519030.1:c.1492C>T XP_011517332.1:p.Gln498Ter
XM_011519030.3:c.1492C>T XP_011517332.1:p.Gln498Ter
XM_011519031.1:c.1279C>T XP_011517333.1:p.Gln427Ter
XM_011519032.1:c.1279C>T XP_011517334.1:p.Gln427Ter
XM_011519033.1:c.3553C>T XP_011517335.1:p.Gln1185Ter
XM_017015134.1:c.3694C>T XP_016870623.1:p.Gln1232Ter
XM_017015136.2:c.3610C>T XP_016870625.1:p.Gln1204Ter
XM_017015137.1:c.3595C>T XP_016870626.1:p.Gln1199Ter
XM_017015138.1:c.3595C>T XP_016870627.1:p.Gln1199Ter
XM_024447674.1:c.3538C>T XP_024303442.1:p.Gln1180Ter
XM_024447675.1:c.3472C>T XP_024303443.1:p.Gln1158Ter
XM_024447676.1:c.2833C>T XP_024303444.1:p.Gln945Ter
XM_024447677.1:c.2833C>T XP_024303445.1:p.Gln945Ter
XM_024447680.1:c.3451C>T XP_024303448.1:p.Gln1151Ter