Canonical Allele Identifier: CA375785620
Community Standard Title: NM_024757.5(EHMT1):c.2473C>T (p.Leu825Phe)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137790938C>T , CM000671.2:g.137790938C>T GRCh38
NC_000009.11:g.140685390C>T , CM000671.1:g.140685390C>T GRCh37
NC_000009.10:g.139805211C>T NCBI36
NG_011776.1:g.176947C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2473C>T MANE Select NP_079033.4:p.Leu825Phe
ENST00000460843.6:c.2473C>T MANE Select ENSP00000417980.1:p.Leu825Phe
NM_001354259.1:c.2380C>T NP_001341188.1:p.Leu794Phe
NM_001354259.2:c.2380C>T NP_001341188.1:p.Leu794Phe
NM_001354263.1:c.2452C>T NP_001341192.1:p.Leu818Phe
NM_001354263.2:c.2452C>T NP_001341192.1:p.Leu818Phe
NM_024757.4:c.2473C>T NP_079033.4:p.Leu825Phe
ENST00000371394.6:c.*2208C>T ENSP00000485945.1:n.*2208C>T
ENST00000460843.5:c.2473C>T ENSP00000417980.1:p.Leu825Phe
ENST00000462942.3:c.1330C>T ENSP00000436107.1:p.Leu444Phe
ENST00000482340.5:c.43C>T ENSP00000486748.1:p.Leu15Phe
ENST00000486164.5:c.51C>T
ENST00000493484.5:c.43C>T ENSP00000486503.1:p.Leu15Phe
ENST00000636027.1:c.2359C>T ENSP00000489961.1:p.Leu787Phe
ENST00000636565.1:n.55C>T
ENST00000637161.1:c.2380C>T ENSP00000490328.1:p.Leu794Phe
ENST00000637261.1:c.2513C>T ENSP00000490815.1:n.2513C>T
ENST00000637891.1:c.367C>T ENSP00000490907.1:p.Leu123Phe
ENST00000637949.1:c.151C>T ENSP00000489786.1:p.Leu51Phe
XM_005266105.3:c.2464C>T XP_005266162.1:p.Leu822Phe
XM_005266105.5:c.2464C>T XP_005266162.1:p.Leu822Phe
XM_005266110.1:c.2380C>T XP_005266167.1:p.Leu794Phe
XM_006717288.2:c.2455C>T XP_006717351.1:p.Leu819Phe
XM_011519021.1:c.2482C>T XP_011517323.1:p.Leu828Phe
XM_011519021.3:c.2482C>T XP_011517323.1:p.Leu828Phe
XM_011519022.1:c.2479C>T XP_011517324.1:p.Leu827Phe
XM_011519022.3:c.2479C>T XP_011517324.1:p.Leu827Phe
XM_011519023.1:c.2461C>T XP_011517325.1:p.Leu821Phe
XM_011519023.3:c.2461C>T XP_011517325.1:p.Leu821Phe
XM_011519024.1:c.2404C>T XP_011517326.1:p.Leu802Phe
XM_011519025.1:c.2380C>T XP_011517327.1:p.Leu794Phe
XM_011519026.1:c.2338C>T XP_011517328.1:p.Leu780Phe
XM_011519027.1:c.2482C>T XP_011517329.1:p.Leu828Phe
XM_011519029.1:c.904C>T XP_011517331.1:p.Leu302Phe
XM_011519029.3:c.904C>T XP_011517331.1:p.Leu302Phe
XM_011519030.1:c.256C>T XP_011517332.1:p.Leu86Phe
XM_011519030.3:c.256C>T XP_011517332.1:p.Leu86Phe
XM_011519031.1:c.43C>T XP_011517333.1:p.Leu15Phe
XM_011519032.1:c.43C>T XP_011517334.1:p.Leu15Phe
XM_011519033.1:c.2317C>T XP_011517335.1:p.Leu773Phe
XM_017015134.1:c.2458C>T XP_016870623.1:p.Leu820Phe
XM_017015136.2:c.2374C>T XP_016870625.1:p.Leu792Phe
XM_017015137.1:c.2359C>T XP_016870626.1:p.Leu787Phe
XM_017015138.1:c.2359C>T XP_016870627.1:p.Leu787Phe
XM_024447674.1:c.2302C>T XP_024303442.1:p.Leu768Phe
XM_024447675.1:c.2236C>T XP_024303443.1:p.Leu746Phe
XM_024447676.1:c.1597C>T XP_024303444.1:p.Leu533Phe
XM_024447677.1:c.1597C>T XP_024303445.1:p.Leu533Phe
XM_024447678.1:c.2380C>T XP_024303446.1:p.Leu794Phe
XM_024447680.1:c.2215C>T XP_024303448.1:p.Leu739Phe