Canonical Allele Identifier: CA375772266
Community Standard Title: NM_024757.5(EHMT1):c.776C>T (p.Ser259Leu)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137728482C>T , CM000671.2:g.137728482C>T GRCh38
NC_000009.11:g.140622934C>T , CM000671.1:g.140622934C>T GRCh37
NC_000009.10:g.139742755C>T NCBI36
NG_011776.1:g.114491C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.776C>T MANE Select NP_079033.4:p.Ser259Leu
ENST00000460843.6:c.776C>T MANE Select ENSP00000417980.1:p.Ser259Leu
NM_001145527.1:c.776C>T NP_001138999.1:p.Ser259Leu
NM_001145527.2:c.776C>T NP_001138999.1:p.Ser259Leu
NM_001354259.1:c.683C>T NP_001341188.1:p.Ser228Leu
NM_001354259.2:c.683C>T NP_001341188.1:p.Ser228Leu
NM_001354263.1:c.776C>T NP_001341192.1:p.Ser259Leu
NM_001354263.2:c.776C>T NP_001341192.1:p.Ser259Leu
NM_001354611.1:c.776C>T NP_001341540.1:p.Ser259Leu
NM_001354611.2:c.776C>T NP_001341540.1:p.Ser259Leu
NM_001354612.1:c.683C>T NP_001341541.1:p.Ser228Leu
NM_001354612.2:c.683C>T NP_001341541.1:p.Ser228Leu
NM_024757.4:c.776C>T NP_079033.4:p.Ser259Leu
ENST00000371394.6:c.*511C>T ENSP00000485945.1:n.*511C>T
ENST00000460843.5:c.776C>T ENSP00000417980.1:p.Ser259Leu
ENST00000462484.5:c.776C>T ENSP00000417328.1:p.Ser259Leu
ENST00000626066.2:c.700C>T
ENST00000629335.2:c.776C>T ENSP00000490056.1:p.Ser259Leu
ENST00000636027.1:c.683C>T ENSP00000489961.1:p.Ser228Leu
ENST00000637161.1:c.683C>T ENSP00000490328.1:p.Ser228Leu
ENST00000637261.1:c.752C>T ENSP00000490815.1:p.Ser251Leu
ENST00000637977.1:c.721C>T
ENST00000638071.1:c.481C>T
XM_005266105.3:c.767C>T XP_005266162.1:p.Ser256Leu
XM_005266105.5:c.767C>T XP_005266162.1:p.Ser256Leu
XM_005266110.1:c.683C>T XP_005266167.1:p.Ser228Leu
XM_006717288.2:c.758C>T XP_006717351.1:p.Ser253Leu
XM_011519021.1:c.785C>T XP_011517323.1:p.Ser262Leu
XM_011519021.3:c.785C>T XP_011517323.1:p.Ser262Leu
XM_011519022.1:c.782C>T XP_011517324.1:p.Ser261Leu
XM_011519022.3:c.782C>T XP_011517324.1:p.Ser261Leu
XM_011519023.1:c.785C>T XP_011517325.1:p.Ser262Leu
XM_011519023.3:c.785C>T XP_011517325.1:p.Ser262Leu
XM_011519024.1:c.785C>T XP_011517326.1:p.Ser262Leu
XM_011519025.1:c.683C>T XP_011517327.1:p.Ser228Leu
XM_011519026.1:c.785C>T XP_011517328.1:p.Ser262Leu
XM_011519027.1:c.785C>T XP_011517329.1:p.Ser262Leu
XM_011519028.1:c.785C>T XP_011517330.1:p.Ser262Leu
XM_011519033.1:c.785C>T XP_011517335.1:p.Ser262Leu
XM_017015134.1:c.782C>T XP_016870623.1:p.Ser261Leu
XM_017015136.2:c.776C>T XP_016870625.1:p.Ser259Leu
XM_017015137.1:c.683C>T XP_016870626.1:p.Ser228Leu
XM_017015138.1:c.683C>T XP_016870627.1:p.Ser228Leu
XM_024447674.1:c.683C>T XP_024303442.1:p.Ser228Leu
XM_024447675.1:c.683C>T XP_024303443.1:p.Ser228Leu
XM_024447678.1:c.683C>T XP_024303446.1:p.Ser228Leu
XM_024447679.1:c.683C>T XP_024303447.1:p.Ser228Leu
XM_024447680.1:c.683C>T XP_024303448.1:p.Ser228Leu