Canonical Allele Identifier: CA375788192
Community Standard Title: NM_024757.5(EHMT1):c.2566C>T (p.Gln856Ter)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137798873C>T , CM000671.2:g.137798873C>T GRCh38
NC_000009.11:g.140693325C>T , CM000671.1:g.140693325C>T GRCh37
NC_000009.10:g.139813146C>T NCBI36
NG_011776.1:g.184882C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2566C>T MANE Select NP_079033.4:p.Gln856Ter
ENST00000460843.6:c.2566C>T MANE Select ENSP00000417980.1:p.Gln856Ter
NM_001354263.1:c.2545C>T NP_001341192.1:p.Gln849Ter
NM_001354263.2:c.2545C>T NP_001341192.1:p.Gln849Ter
NM_024757.4:c.2566C>T NP_079033.4:p.Gln856Ter
ENST00000460843.5:c.2566C>T ENSP00000417980.1:p.Gln856Ter
ENST00000462942.3:c.1423C>T ENSP00000436107.1:p.Gln475Ter
ENST00000482340.5:c.136C>T ENSP00000486748.1:p.Gln46Ter
ENST00000486164.5:c.144C>T
ENST00000493484.5:c.136C>T ENSP00000486503.1:p.Gln46Ter
ENST00000635783.1:n.24C>T
ENST00000636027.1:c.2452C>T ENSP00000489961.1:p.Gln818Ter
ENST00000637161.1:c.2473C>T ENSP00000490328.1:p.Gln825Ter
ENST00000637261.1:c.2606C>T ENSP00000490815.1:n.2606C>T
ENST00000637891.1:c.460C>T ENSP00000490907.1:p.Gln154Ter
ENST00000637949.1:c.244C>T ENSP00000489786.1:p.Gln82Ter
XM_005266105.3:c.2557C>T XP_005266162.1:p.Gln853Ter
XM_005266105.5:c.2557C>T XP_005266162.1:p.Gln853Ter
XM_005266110.1:c.2473C>T XP_005266167.1:p.Gln825Ter
XM_006717288.2:c.2548C>T XP_006717351.1:p.Gln850Ter
XM_011519021.1:c.2575C>T XP_011517323.1:p.Gln859Ter
XM_011519021.3:c.2575C>T XP_011517323.1:p.Gln859Ter
XM_011519022.1:c.2572C>T XP_011517324.1:p.Gln858Ter
XM_011519022.3:c.2572C>T XP_011517324.1:p.Gln858Ter
XM_011519023.1:c.2554C>T XP_011517325.1:p.Gln852Ter
XM_011519023.3:c.2554C>T XP_011517325.1:p.Gln852Ter
XM_011519024.1:c.2497C>T XP_011517326.1:p.Gln833Ter
XM_011519025.1:c.2473C>T XP_011517327.1:p.Gln825Ter
XM_011519026.1:c.2431C>T XP_011517328.1:p.Gln811Ter
XM_011519027.1:c.2575C>T XP_011517329.1:p.Gln859Ter
XM_011519029.1:c.997C>T XP_011517331.1:p.Gln333Ter
XM_011519029.3:c.997C>T XP_011517331.1:p.Gln333Ter
XM_011519030.1:c.349C>T XP_011517332.1:p.Gln117Ter
XM_011519030.3:c.349C>T XP_011517332.1:p.Gln117Ter
XM_011519031.1:c.136C>T XP_011517333.1:p.Gln46Ter
XM_011519032.1:c.136C>T XP_011517334.1:p.Gln46Ter
XM_011519033.1:c.2410C>T XP_011517335.1:p.Gln804Ter
XM_017015134.1:c.2551C>T XP_016870623.1:p.Gln851Ter
XM_017015136.2:c.2467C>T XP_016870625.1:p.Gln823Ter
XM_017015137.1:c.2452C>T XP_016870626.1:p.Gln818Ter
XM_017015138.1:c.2452C>T XP_016870627.1:p.Gln818Ter
XM_024447674.1:c.2395C>T XP_024303442.1:p.Gln799Ter
XM_024447675.1:c.2329C>T XP_024303443.1:p.Gln777Ter
XM_024447676.1:c.1690C>T XP_024303444.1:p.Gln564Ter
XM_024447677.1:c.1690C>T XP_024303445.1:p.Gln564Ter
XM_024447678.1:c.2473C>T XP_024303446.1:p.Gln825Ter
XM_024447680.1:c.2308C>T XP_024303448.1:p.Gln770Ter