Canonical Allele Identifier: CA1016498

Gene: DCLRE1B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113911538G>A , CM000663.2:g.113911538G>A	GRCh38
NC_000001.10:g.114454160G>A , CM000663.1:g.114454160G>A	GRCh37
NC_000001.9:g.114255683G>A	NCBI36
NG_057565.1:g.11920G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022836.4:c.946G>A MANE Select	NP_073747.1:p.Val316Met
ENST00000650450.2:c.946G>A MANE Select	ENSP00000498042.1:p.Val316Met
NM_001319946.2:c.568G>A	NP_001306875.1:p.Val190Met
NM_001319947.2:c.568G>A	NP_001306876.1:p.Val190Met
NM_001363690.1:c.946G>A	NP_001350619.1:p.Val316Met
NM_001363690.2:c.946G>A	NP_001350619.1:p.Val316Met
NM_001363691.1:c.568G>A	NP_001350620.1:p.Val190Met
NM_001363691.2:c.568G>A	NP_001350620.1:p.Val190Met
NM_022836.3:c.946G>A	NP_073747.1:p.Val316Met
ENST00000369563.3:c.946G>A	ENSP00000358576.3:p.Val316Met
ENST00000466480.1:n.958G>A
ENST00000466480.2:c.*561G>A	ENSP00000497696.1:n.*561G>A
ENST00000648795.1:c.*561G>A	ENSP00000497557.1:n.*561G>A
ENST00000650596.1:c.763G>A	ENSP00000497882.1:p.Val255Met
ENST00000697126.1:n.1354G>A
XM_005271130.2:c.568G>A	XP_005271187.1:p.Val190Met