Canonical Allele Identifier: CA304149122

Gene: DOT1L

Linked Data

• dbSNP Id: rs12982744
• gnomAD v2: 19-2177193-C-T
• gnomAD v3: 19-2177194-C-T
• gnomAD v4: 19-2177194-C-T
• MyVariant Identifiers: chr19:g.2177193C>T (hg19) ; chr19:g.2177194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2177194C>T , CM000681.2:g.2177194C>T	GRCh38
NC_000019.9:g.2177193C>T , CM000681.1:g.2177193C>T	GRCh37
NC_000019.8:g.2128193C>T	NCBI36
NG_029793.1:g.18046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686010.1:c.82-3519C>T	ENSP00000510335.1:n.82-3519C>T
ENST00000398665.8:c.82-3519C>T MANE Select	ENSP00000381657.3:n.82-3519C>T
ENST00000398665.7:c.82-3519C>T	ENSP00000381657.3:n.82-3519C>T
ENST00000452696.5:c.82-3519C>T	ENSP00000404284.1:n.82-3519C>T
ENST00000478937.3:c.69-3519C>T
NM_032482.2:c.82-3519C>T	NP_115871.1:n.82-3519C>T
XM_005259659.2:c.82-3519C>T	XP_005259716.1:n.82-3519C>T
XM_005259660.2:c.82-3519C>T	XP_005259717.1:n.82-3519C>T
XM_006722923.2:c.-539-3519C>T	XP_006722986.1:n.-539-3519C>T
XM_011528359.1:c.82-3519C>T	XP_011526661.1:n.82-3519C>T
XM_011528360.1:c.-222-3519C>T	XP_011526662.1:n.-222-3519C>T
XM_005259659.3:c.82-3519C>T	XP_005259716.1:n.82-3519C>T
XM_005259660.3:c.82-3519C>T	XP_005259717.1:n.82-3519C>T
XM_011528359.2:c.82-3519C>T	XP_011526661.1:n.82-3519C>T
XM_017027366.1:c.-539-3519C>T	XP_016882855.1:n.-539-3519C>T
NM_032482.3:c.82-3519C>T MANE Select	NP_115871.1:n.82-3519C>T