Canonical Allele Identifier: CA1016399

Gene: DCLRE1B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113908078T>C , CM000663.2:g.113908078T>C	GRCh38
NC_000001.10:g.114450700T>C , CM000663.1:g.114450700T>C	GRCh37
NC_000001.9:g.114252223T>C	NCBI36
NG_031901.1:g.2042A>G
NG_057565.1:g.8460T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022836.4:c.425T>C MANE Select	NP_073747.1:p.Leu142Ser
ENST00000650450.2:c.425T>C MANE Select	ENSP00000498042.1:p.Leu142Ser
NM_001319946.2:c.47T>C	NP_001306875.1:p.Leu16Ser
NM_001319947.2:c.47T>C	NP_001306876.1:p.Leu16Ser
NM_001363690.1:c.425T>C	NP_001350619.1:p.Leu142Ser
NM_001363690.2:c.425T>C	NP_001350619.1:p.Leu142Ser
NM_001363691.1:c.47T>C	NP_001350620.1:p.Leu16Ser
NM_001363691.2:c.47T>C	NP_001350620.1:p.Leu16Ser
NM_022836.3:c.425T>C	NP_073747.1:p.Leu142Ser
ENST00000369563.3:c.425T>C	ENSP00000358576.3:p.Leu142Ser
ENST00000466480.1:n.437T>C
ENST00000466480.2:c.*40T>C	ENSP00000497696.1:n.*40T>C
ENST00000648795.1:c.*40T>C	ENSP00000497557.1:n.*40T>C
ENST00000650596.1:c.355+917T>C	ENSP00000497882.1:n.355+917T>C
ENST00000697125.1:n.467T>C
ENST00000697126.1:n.833T>C
XM_005271130.2:c.47T>C	XP_005271187.1:p.Leu16Ser