Canonical Allele Identifier: CA201841593
Community Standard Title: NM_024757.5(EHMT1):c.2842C>T (p.Arg948Trp)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137811590C>T , CM000671.2:g.137811590C>T GRCh38
NC_000009.11:g.140706042C>T , CM000671.1:g.140706042C>T GRCh37
NC_000009.10:g.139825863C>T NCBI36
NG_011776.1:g.197599C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2842C>T MANE Select NP_079033.4:p.Arg948Trp
ENST00000460843.6:c.2842C>T MANE Select ENSP00000417980.1:p.Arg948Trp
NM_001354263.1:c.2821C>T NP_001341192.1:p.Arg941Trp
NM_001354263.2:c.2821C>T NP_001341192.1:p.Arg941Trp
NM_024757.4:c.2842C>T NP_079033.4:p.Arg948Trp
ENST00000460843.5:c.2842C>T ENSP00000417980.1:p.Arg948Trp
ENST00000462942.3:c.1699C>T ENSP00000436107.1:p.Arg567Trp
ENST00000486164.5:c.529C>T
ENST00000488242.2:n.368C>T
ENST00000636027.1:c.2728C>T ENSP00000489961.1:p.Arg910Trp
ENST00000637161.1:c.2749C>T ENSP00000490328.1:p.Arg917Trp
ENST00000637261.1:c.2882C>T ENSP00000490815.1:n.2882C>T
ENST00000637891.1:c.736C>T ENSP00000490907.1:p.Arg246Trp
XM_005266105.3:c.2833C>T XP_005266162.1:p.Arg945Trp
XM_005266105.5:c.2833C>T XP_005266162.1:p.Arg945Trp
XM_005266110.1:c.2749C>T XP_005266167.1:p.Arg917Trp
XM_006717288.2:c.2824C>T XP_006717351.1:p.Arg942Trp
XM_011519021.1:c.2851C>T XP_011517323.1:p.Arg951Trp
XM_011519021.3:c.2851C>T XP_011517323.1:p.Arg951Trp
XM_011519022.1:c.2848C>T XP_011517324.1:p.Arg950Trp
XM_011519022.3:c.2848C>T XP_011517324.1:p.Arg950Trp
XM_011519023.1:c.2830C>T XP_011517325.1:p.Arg944Trp
XM_011519023.3:c.2830C>T XP_011517325.1:p.Arg944Trp
XM_011519024.1:c.2773C>T XP_011517326.1:p.Arg925Trp
XM_011519025.1:c.2749C>T XP_011517327.1:p.Arg917Trp
XM_011519026.1:c.2707C>T XP_011517328.1:p.Arg903Trp
XM_011519029.1:c.1273C>T XP_011517331.1:p.Arg425Trp
XM_011519029.3:c.1273C>T XP_011517331.1:p.Arg425Trp
XM_011519030.1:c.625C>T XP_011517332.1:p.Arg209Trp
XM_011519030.3:c.625C>T XP_011517332.1:p.Arg209Trp
XM_011519031.1:c.412C>T XP_011517333.1:p.Arg138Trp
XM_011519032.1:c.412C>T XP_011517334.1:p.Arg138Trp
XM_011519033.1:c.2686C>T XP_011517335.1:p.Arg896Trp
XM_017015134.1:c.2827C>T XP_016870623.1:p.Arg943Trp
XM_017015136.2:c.2743C>T XP_016870625.1:p.Arg915Trp
XM_017015137.1:c.2728C>T XP_016870626.1:p.Arg910Trp
XM_017015138.1:c.2728C>T XP_016870627.1:p.Arg910Trp
XM_024447674.1:c.2671C>T XP_024303442.1:p.Arg891Trp
XM_024447675.1:c.2605C>T XP_024303443.1:p.Arg869Trp
XM_024447676.1:c.1966C>T XP_024303444.1:p.Arg656Trp
XM_024447677.1:c.1966C>T XP_024303445.1:p.Arg656Trp
XM_024447680.1:c.2584C>T XP_024303448.1:p.Arg862Trp