Canonical Allele Identifier: CA6032868
Community Standard Title: NM_001923.5(DDB1):c.2280T>C (p.Ala760=)
Gene: DDB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61310416A>G , CM000673.2:g.61310416A>G GRCh38
NC_000011.9:g.61077888A>G , CM000673.1:g.61077888A>G GRCh37
NC_000011.8:g.60834464A>G NCBI36
NG_032697.2:g.37181T>C , LRG_474:g.37181T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001923.5:c.2280T>C MANE Select NP_001914.3:p.Ala760=
ENST00000301764.12:c.2280T>C MANE Select ENSP00000301764.7:p.Ala760=
NM_001923.4:c.2280T>C , LRG_474t1:c.2280T>C NP_001914.3:p.Ala760=
ENST00000301764.11:c.2280T>C ENSP00000301764.7:p.Ala760=
ENST00000535147.5:n.2669T>C
ENST00000535283.6:c.*814T>C ENSP00000441825.2:n.*814T>C
ENST00000539332.2:n.934T>C
ENST00000540166.5:c.2280T>C ENSP00000440269.1:p.Ala760=
ENST00000543658.5:c.213T>C ENSP00000445844.1:p.Ala71=
ENST00000679588.1:c.2112T>C ENSP00000506134.1:p.Ala704=
ENST00000679712.1:c.2067T>C ENSP00000504878.1:p.Ala689=
ENST00000679855.1:n.2422T>C
ENST00000680075.1:c.2058T>C ENSP00000504954.1:p.Ala686=
ENST00000680250.1:n.2422T>C
ENST00000680357.1:c.*1743T>C ENSP00000506385.1:n.*1743T>C
ENST00000680367.1:c.2280T>C ENSP00000506223.1:p.Ala760=
ENST00000680452.1:n.1294T>C
ENST00000680602.1:c.2043T>C ENSP00000505437.1:p.Ala681=
ENST00000680717.1:c.1941T>C ENSP00000506457.1:p.Ala647=
ENST00000680881.1:n.2519T>C
ENST00000680959.1:n.1280T>C
ENST00000681188.1:c.*2144T>C ENSP00000506472.1:n.*2144T>C
ENST00000681368.1:n.2422T>C
ENST00000681803.1:c.2280T>C ENSP00000506685.1:p.Ala760=
ENST00000681935.1:c.2280T>C ENSP00000505717.1:p.Ala760=