Canonical Allele Identifier: CA1016385

Gene: DCLRE1B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113908017C>T , CM000663.2:g.113908017C>T	GRCh38
NC_000001.10:g.114450639C>T , CM000663.1:g.114450639C>T	GRCh37
NC_000001.9:g.114252162C>T	NCBI36
NG_031901.1:g.2103G>A
NG_057565.1:g.8399C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022836.4:c.364C>T MANE Select	NP_073747.1:p.Arg122Ter
ENST00000650450.2:c.364C>T MANE Select	ENSP00000498042.1:p.Arg122Ter
NM_001319946.2:c.-15C>T	NP_001306875.1:n.-15C>T
NM_001319947.2:c.-15C>T	NP_001306876.1:n.-15C>T
NM_001363690.1:c.364C>T	NP_001350619.1:p.Arg122Ter
NM_001363690.2:c.364C>T	NP_001350619.1:p.Arg122Ter
NM_001363691.1:c.-15C>T	NP_001350620.1:n.-15C>T
NM_001363691.2:c.-15C>T	NP_001350620.1:n.-15C>T
NM_022836.3:c.364C>T	NP_073747.1:p.Arg122Ter
ENST00000369563.3:c.364C>T	ENSP00000358576.3:p.Arg122Ter
ENST00000466480.1:n.376C>T
ENST00000466480.2:c.198C>T	ENSP00000497696.1:p.Phe66=
ENST00000648795.1:c.198C>T	ENSP00000497557.1:p.Phe66=
ENST00000650596.1:c.355+856C>T	ENSP00000497882.1:n.355+856C>T
ENST00000697125.1:n.406C>T
ENST00000697126.1:n.772C>T
XM_005271130.2:c.-15C>T	XP_005271187.1:n.-15C>T