Canonical Allele Identifier: CA375793823
Community Standard Title: NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813396C>T , CM000671.2:g.137813396C>T GRCh38
NC_000009.11:g.140707848C>T , CM000671.1:g.140707848C>T GRCh37
NC_000009.10:g.139827669C>T NCBI36
NG_011776.1:g.199405C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3046C>T MANE Select NP_079033.4:p.Arg1016Ter
ENST00000460843.6:c.3046C>T MANE Select ENSP00000417980.1:p.Arg1016Ter
NM_001354263.1:c.3025C>T NP_001341192.1:p.Arg1009Ter
NM_001354263.2:c.3025C>T NP_001341192.1:p.Arg1009Ter
NM_024757.4:c.3046C>T NP_079033.4:p.Arg1016Ter
ENST00000460843.5:c.3046C>T ENSP00000417980.1:p.Arg1016Ter
ENST00000462942.3:c.1903C>T ENSP00000436107.1:p.Arg635Ter
ENST00000486164.5:c.733C>T
ENST00000488242.2:n.572C>T
ENST00000636027.1:c.2932C>T ENSP00000489961.1:p.Arg978Ter
ENST00000637161.1:c.2953C>T ENSP00000490328.1:p.Arg985Ter
ENST00000637261.1:c.3086C>T ENSP00000490815.1:n.3086C>T
ENST00000637891.1:c.940C>T ENSP00000490907.1:p.Arg314Ter
XM_005266105.3:c.3037C>T XP_005266162.1:p.Arg1013Ter
XM_005266105.5:c.3037C>T XP_005266162.1:p.Arg1013Ter
XM_005266110.1:c.2953C>T XP_005266167.1:p.Arg985Ter
XM_006717288.2:c.3028C>T XP_006717351.1:p.Arg1010Ter
XM_011519021.1:c.3055C>T XP_011517323.1:p.Arg1019Ter
XM_011519021.3:c.3055C>T XP_011517323.1:p.Arg1019Ter
XM_011519022.1:c.3052C>T XP_011517324.1:p.Arg1018Ter
XM_011519022.3:c.3052C>T XP_011517324.1:p.Arg1018Ter
XM_011519023.1:c.3034C>T XP_011517325.1:p.Arg1012Ter
XM_011519023.3:c.3034C>T XP_011517325.1:p.Arg1012Ter
XM_011519024.1:c.2977C>T XP_011517326.1:p.Arg993Ter
XM_011519025.1:c.2953C>T XP_011517327.1:p.Arg985Ter
XM_011519026.1:c.2911C>T XP_011517328.1:p.Arg971Ter
XM_011519029.1:c.1477C>T XP_011517331.1:p.Arg493Ter
XM_011519029.3:c.1477C>T XP_011517331.1:p.Arg493Ter
XM_011519030.1:c.829C>T XP_011517332.1:p.Arg277Ter
XM_011519030.3:c.829C>T XP_011517332.1:p.Arg277Ter
XM_011519031.1:c.616C>T XP_011517333.1:p.Arg206Ter
XM_011519032.1:c.616C>T XP_011517334.1:p.Arg206Ter
XM_011519033.1:c.2890C>T XP_011517335.1:p.Arg964Ter
XM_017015134.1:c.3031C>T XP_016870623.1:p.Arg1011Ter
XM_017015136.2:c.2947C>T XP_016870625.1:p.Arg983Ter
XM_017015137.1:c.2932C>T XP_016870626.1:p.Arg978Ter
XM_017015138.1:c.2932C>T XP_016870627.1:p.Arg978Ter
XM_024447674.1:c.2875C>T XP_024303442.1:p.Arg959Ter
XM_024447675.1:c.2809C>T XP_024303443.1:p.Arg937Ter
XM_024447676.1:c.2170C>T XP_024303444.1:p.Arg724Ter
XM_024447677.1:c.2170C>T XP_024303445.1:p.Arg724Ter
XM_024447680.1:c.2788C>T XP_024303448.1:p.Arg930Ter