Canonical Allele Identifier: CA5374753
Community Standard Title: NM_024757.5(EHMT1):c.1877A>G (p.Tyr626Cys)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137776703A>G , CM000671.2:g.137776703A>G GRCh38
NC_000009.11:g.140671155A>G , CM000671.1:g.140671155A>G GRCh37
NC_000009.10:g.139790976A>G NCBI36
NG_011776.1:g.162712A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.1877A>G MANE Select NP_079033.4:p.Tyr626Cys
ENST00000460843.6:c.1877A>G MANE Select ENSP00000417980.1:p.Tyr626Cys
NM_001145527.1:c.1877A>G NP_001138999.1:p.Tyr626Cys
NM_001145527.2:c.1877A>G NP_001138999.1:p.Tyr626Cys
NM_001354259.1:c.1784A>G NP_001341188.1:p.Tyr595Cys
NM_001354259.2:c.1784A>G NP_001341188.1:p.Tyr595Cys
NM_001354263.1:c.1856A>G NP_001341192.1:p.Tyr619Cys
NM_001354263.2:c.1856A>G NP_001341192.1:p.Tyr619Cys
NM_024757.4:c.1877A>G NP_079033.4:p.Tyr626Cys
ENST00000371394.6:c.*1612A>G ENSP00000485945.1:n.*1612A>G
ENST00000460843.5:c.1877A>G ENSP00000417980.1:p.Tyr626Cys
ENST00000462484.5:c.1877A>G ENSP00000417328.1:p.Tyr626Cys
ENST00000462942.3:c.734A>G ENSP00000436107.1:p.Tyr245Cys
ENST00000465566.2:c.425A>G ENSP00000486261.1:p.Tyr142Cys
ENST00000626603.1:n.1746T>C
ENST00000636027.1:c.1763A>G ENSP00000489961.1:p.Tyr588Cys
ENST00000637161.1:c.1784A>G ENSP00000490328.1:p.Tyr595Cys
ENST00000637261.1:c.1917A>G ENSP00000490815.1:n.1917A>G
ENST00000638071.1:c.1504A>G
ENST00000640639.1:c.1046A>G ENSP00000491823.1:p.Tyr349Cys
XM_005266105.3:c.1868A>G XP_005266162.1:p.Tyr623Cys
XM_005266105.5:c.1868A>G XP_005266162.1:p.Tyr623Cys
XM_005266110.1:c.1784A>G XP_005266167.1:p.Tyr595Cys
XM_006717288.2:c.1859A>G XP_006717351.1:p.Tyr620Cys
XM_011519021.1:c.1886A>G XP_011517323.1:p.Tyr629Cys
XM_011519021.3:c.1886A>G XP_011517323.1:p.Tyr629Cys
XM_011519022.1:c.1883A>G XP_011517324.1:p.Tyr628Cys
XM_011519022.3:c.1883A>G XP_011517324.1:p.Tyr628Cys
XM_011519023.1:c.1865A>G XP_011517325.1:p.Tyr622Cys
XM_011519023.3:c.1865A>G XP_011517325.1:p.Tyr622Cys
XM_011519024.1:c.1808A>G XP_011517326.1:p.Tyr603Cys
XM_011519025.1:c.1784A>G XP_011517327.1:p.Tyr595Cys
XM_011519026.1:c.1742A>G XP_011517328.1:p.Tyr581Cys
XM_011519027.1:c.1886A>G XP_011517329.1:p.Tyr629Cys
XM_011519028.1:c.1886A>G XP_011517330.1:p.Tyr629Cys
XM_011519029.1:c.308A>G XP_011517331.1:p.Tyr103Cys
XM_011519029.3:c.308A>G XP_011517331.1:p.Tyr103Cys
XM_011519033.1:c.1721A>G XP_011517335.1:p.Tyr574Cys
XM_017015134.1:c.1862A>G XP_016870623.1:p.Tyr621Cys
XM_017015136.2:c.1778A>G XP_016870625.1:p.Tyr593Cys
XM_017015137.1:c.1763A>G XP_016870626.1:p.Tyr588Cys
XM_017015138.1:c.1763A>G XP_016870627.1:p.Tyr588Cys
XM_024447674.1:c.1706A>G XP_024303442.1:p.Tyr569Cys
XM_024447675.1:c.1640A>G XP_024303443.1:p.Tyr547Cys
XM_024447676.1:c.1001A>G XP_024303444.1:p.Tyr334Cys
XM_024447677.1:c.1001A>G XP_024303445.1:p.Tyr334Cys
XM_024447678.1:c.1784A>G XP_024303446.1:p.Tyr595Cys
XM_024447679.1:c.1784A>G XP_024303447.1:p.Tyr595Cys
XM_024447680.1:c.1619A>G XP_024303448.1:p.Tyr540Cys