Canonical Allele Identifier: CA9060376
Community Standard Title: NM_032482.3(DOT1L):c.1104C>T (p.Ala368=)
Gene: DOT1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2210498C>T , CM000681.2:g.2210498C>T GRCh38
NC_000019.9:g.2210497C>T , CM000681.1:g.2210497C>T GRCh37
NC_000019.8:g.2161497C>T NCBI36
NG_029793.1:g.51350C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032482.3:c.1104C>T MANE Select NP_115871.1:p.Ala368=
ENST00000398665.8:c.1104C>T MANE Select ENSP00000381657.3:p.Ala368=
NM_032482.2:c.1104C>T NP_115871.1:p.Ala368=
ENST00000398665.7:c.1104C>T ENSP00000381657.3:p.Ala368=
ENST00000686010.1:c.1104C>T ENSP00000510335.1:p.Ala368=
XM_005259659.2:c.1104C>T XP_005259716.1:p.Ala368=
XM_005259659.3:c.1104C>T XP_005259716.1:p.Ala368=
XM_005259660.2:c.1104C>T XP_005259717.1:p.Ala368=
XM_005259660.3:c.1104C>T XP_005259717.1:p.Ala368=
XM_006722923.2:c.447C>T XP_006722986.1:p.Ala149=
XM_011528359.1:c.1104C>T XP_011526661.1:p.Ala368=
XM_011528359.2:c.1104C>T XP_011526661.1:p.Ala368=
XM_011528360.1:c.894C>T XP_011526662.1:p.Ala298=
XM_011528361.1:c.234C>T XP_011526663.1:p.Ala78=
XM_011528361.2:c.234C>T XP_011526663.1:p.Ala78=
XM_017027366.1:c.447C>T XP_016882855.1:p.Ala149=