Canonical Allele Identifier: CA10016547

Gene: DOP1B

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36231128C>G , CM000683.2:g.36231128C>G	GRCh38
NC_000021.8:g.37603426C>G , CM000683.1:g.37603426C>G	GRCh37
NC_000021.7:g.36525296C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001320714.2:c.2344C>G MANE Select	NP_001307643.1:p.Leu782Val
ENST00000691173.1:c.2344C>G MANE Select	ENSP00000509598.1:p.Leu782Val
NM_001320714.1:c.2344C>G	NP_001307643.1:p.Leu782Val
NM_005128.3:c.2344C>G	NP_005119.2:p.Leu782Val
NM_005128.4:c.2344C>G	NP_005119.2:p.Leu782Val
ENST00000399151.3:c.2344C>G	ENSP00000382104.3:p.Leu782Val
ENST00000685394.1:c.2344C>G	ENSP00000510500.1:p.Leu782Val
ENST00000693273.1:c.*1319C>G	ENSP00000510799.1:n.*1319C>G
XM_006724068.1:c.2344C>G	XP_006724131.1:p.Leu782Val
XM_017028509.1:c.1690C>G	XP_016883998.1:p.Leu564Val
XR_001754923.2:n.2533C>G
XR_937581.1:n.2529C>G
XR_937581.3:n.2532C>G
XR_937582.1:n.2531C>G