Canonical Allele Identifier: CA375788936
Community Standard Title: NM_024757.5(EHMT1):c.2670G>T (p.Lys890Asn)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137800942G>T , CM000671.2:g.137800942G>T GRCh38
NC_000009.11:g.140695394G>T , CM000671.1:g.140695394G>T GRCh37
NC_000009.10:g.139815215G>T NCBI36
NG_011776.1:g.186951G>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2670G>T MANE Select NP_079033.4:p.Lys890Asn
ENST00000460843.6:c.2670G>T MANE Select ENSP00000417980.1:p.Lys890Asn
NM_001354263.1:c.2649G>T NP_001341192.1:p.Lys883Asn
NM_001354263.2:c.2649G>T NP_001341192.1:p.Lys883Asn
NM_024757.4:c.2670G>T NP_079033.4:p.Lys890Asn
ENST00000460843.5:c.2670G>T ENSP00000417980.1:p.Lys890Asn
ENST00000462942.3:c.1527G>T ENSP00000436107.1:p.Lys509Asn
ENST00000482340.5:c.240G>T ENSP00000486748.1:p.Lys80Asn
ENST00000486164.5:c.248G>T
ENST00000488242.2:n.196G>T
ENST00000493484.5:c.240G>T ENSP00000486503.1:p.Lys80Asn
ENST00000636027.1:c.2556G>T ENSP00000489961.1:p.Lys852Asn
ENST00000637161.1:c.2577G>T ENSP00000490328.1:p.Lys859Asn
ENST00000637261.1:c.2710G>T ENSP00000490815.1:n.2710G>T
ENST00000637891.1:c.564G>T ENSP00000490907.1:p.Lys188Asn
ENST00000637949.1:c.348G>T ENSP00000489786.1:p.Lys116Asn
XM_005266105.3:c.2661G>T XP_005266162.1:p.Lys887Asn
XM_005266105.5:c.2661G>T XP_005266162.1:p.Lys887Asn
XM_005266110.1:c.2577G>T XP_005266167.1:p.Lys859Asn
XM_006717288.2:c.2652G>T XP_006717351.1:p.Lys884Asn
XM_011519021.1:c.2679G>T XP_011517323.1:p.Lys893Asn
XM_011519021.3:c.2679G>T XP_011517323.1:p.Lys893Asn
XM_011519022.1:c.2676G>T XP_011517324.1:p.Lys892Asn
XM_011519022.3:c.2676G>T XP_011517324.1:p.Lys892Asn
XM_011519023.1:c.2658G>T XP_011517325.1:p.Lys886Asn
XM_011519023.3:c.2658G>T XP_011517325.1:p.Lys886Asn
XM_011519024.1:c.2601G>T XP_011517326.1:p.Lys867Asn
XM_011519025.1:c.2577G>T XP_011517327.1:p.Lys859Asn
XM_011519026.1:c.2535G>T XP_011517328.1:p.Lys845Asn
XM_011519027.1:c.2679G>T XP_011517329.1:p.Lys893Asn
XM_011519029.1:c.1101G>T XP_011517331.1:p.Lys367Asn
XM_011519029.3:c.1101G>T XP_011517331.1:p.Lys367Asn
XM_011519030.1:c.453G>T XP_011517332.1:p.Lys151Asn
XM_011519030.3:c.453G>T XP_011517332.1:p.Lys151Asn
XM_011519031.1:c.240G>T XP_011517333.1:p.Lys80Asn
XM_011519032.1:c.240G>T XP_011517334.1:p.Lys80Asn
XM_011519033.1:c.2514G>T XP_011517335.1:p.Lys838Asn
XM_017015134.1:c.2655G>T XP_016870623.1:p.Lys885Asn
XM_017015136.2:c.2571G>T XP_016870625.1:p.Lys857Asn
XM_017015137.1:c.2556G>T XP_016870626.1:p.Lys852Asn
XM_017015138.1:c.2556G>T XP_016870627.1:p.Lys852Asn
XM_024447674.1:c.2499G>T XP_024303442.1:p.Lys833Asn
XM_024447675.1:c.2433G>T XP_024303443.1:p.Lys811Asn
XM_024447676.1:c.1794G>T XP_024303444.1:p.Lys598Asn
XM_024447677.1:c.1794G>T XP_024303445.1:p.Lys598Asn
XM_024447678.1:c.2577G>T XP_024303446.1:p.Lys859Asn
XM_024447680.1:c.2412G>T XP_024303448.1:p.Lys804Asn