Canonical Allele Identifier: CA375779165
Community Standard Title: NM_024757.5(EHMT1):c.2159T>G (p.Leu720Trp)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137778022T>G , CM000671.2:g.137778022T>G GRCh38
NC_000009.11:g.140672474T>G , CM000671.1:g.140672474T>G GRCh37
NC_000009.10:g.139792295T>G NCBI36
NG_011776.1:g.164031T>G

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2159T>G MANE Select NP_079033.4:p.Leu720Trp
ENST00000460843.6:c.2159T>G MANE Select ENSP00000417980.1:p.Leu720Trp
NM_001145527.1:c.2159T>G NP_001138999.1:p.Leu720Trp
NM_001145527.2:c.2159T>G NP_001138999.1:p.Leu720Trp
NM_001354259.1:c.2066T>G NP_001341188.1:p.Leu689Trp
NM_001354259.2:c.2066T>G NP_001341188.1:p.Leu689Trp
NM_001354263.1:c.2138T>G NP_001341192.1:p.Leu713Trp
NM_001354263.2:c.2138T>G NP_001341192.1:p.Leu713Trp
NM_024757.4:c.2159T>G NP_079033.4:p.Leu720Trp
ENST00000371394.6:c.*1894T>G ENSP00000485945.1:n.*1894T>G
ENST00000460843.5:c.2159T>G ENSP00000417980.1:p.Leu720Trp
ENST00000462484.5:c.2159T>G ENSP00000417328.1:p.Leu720Trp
ENST00000462942.3:c.1016T>G ENSP00000436107.1:p.Leu339Trp
ENST00000626603.1:n.1061-634A>C
ENST00000636027.1:c.2045T>G ENSP00000489961.1:p.Leu682Trp
ENST00000637161.1:c.2066T>G ENSP00000490328.1:p.Leu689Trp
ENST00000637261.1:c.2199T>G ENSP00000490815.1:n.2199T>G
ENST00000637891.1:c.53T>G ENSP00000490907.1:p.Leu18Trp
XM_005266105.3:c.2150T>G XP_005266162.1:p.Leu717Trp
XM_005266105.5:c.2150T>G XP_005266162.1:p.Leu717Trp
XM_005266110.1:c.2066T>G XP_005266167.1:p.Leu689Trp
XM_006717288.2:c.2141T>G XP_006717351.1:p.Leu714Trp
XM_011519021.1:c.2168T>G XP_011517323.1:p.Leu723Trp
XM_011519021.3:c.2168T>G XP_011517323.1:p.Leu723Trp
XM_011519022.1:c.2165T>G XP_011517324.1:p.Leu722Trp
XM_011519022.3:c.2165T>G XP_011517324.1:p.Leu722Trp
XM_011519023.1:c.2147T>G XP_011517325.1:p.Leu716Trp
XM_011519023.3:c.2147T>G XP_011517325.1:p.Leu716Trp
XM_011519024.1:c.2090T>G XP_011517326.1:p.Leu697Trp
XM_011519025.1:c.2066T>G XP_011517327.1:p.Leu689Trp
XM_011519026.1:c.2024T>G XP_011517328.1:p.Leu675Trp
XM_011519027.1:c.2168T>G XP_011517329.1:p.Leu723Trp
XM_011519028.1:c.2168T>G XP_011517330.1:p.Leu723Trp
XM_011519029.1:c.590T>G XP_011517331.1:p.Leu197Trp
XM_011519029.3:c.590T>G XP_011517331.1:p.Leu197Trp
XM_011519033.1:c.2003T>G XP_011517335.1:p.Leu668Trp
XM_017015134.1:c.2144T>G XP_016870623.1:p.Leu715Trp
XM_017015136.2:c.2060T>G XP_016870625.1:p.Leu687Trp
XM_017015137.1:c.2045T>G XP_016870626.1:p.Leu682Trp
XM_017015138.1:c.2045T>G XP_016870627.1:p.Leu682Trp
XM_024447674.1:c.1988T>G XP_024303442.1:p.Leu663Trp
XM_024447675.1:c.1922T>G XP_024303443.1:p.Leu641Trp
XM_024447676.1:c.1283T>G XP_024303444.1:p.Leu428Trp
XM_024447677.1:c.1283T>G XP_024303445.1:p.Leu428Trp
XM_024447678.1:c.2066T>G XP_024303446.1:p.Leu689Trp
XM_024447679.1:c.2066T>G XP_024303447.1:p.Leu689Trp
XM_024447680.1:c.1901T>G XP_024303448.1:p.Leu634Trp