Canonical Allele Identifier: CA2575413707

Gene: RB1

Linked Data

• dbSNP Id: rs2138360033

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476924A>C , CM000675.2:g.48476924A>C	GRCh38
NC_000013.10:g.49051060A>C , CM000675.1:g.49051060A>C	GRCh37
NC_000013.9:g.47949061A>C	NCBI36
NG_009009.1:g.178178A>C , LRG_517:g.178178A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2663+81A>C MANE Select	ENSP00000267163.4:n.2663+81A>C
ENST00000643064.1:c.194+95481A>C
ENST00000650461.1:c.2663+81A>C	ENSP00000497193.1:n.2663+81A>C
ENST00000267163.4:c.2663+81A>C	ENSP00000267163.4:n.2663+81A>C
ENST00000484879.1:n.397+81A>C
ENST00000531171.5:n.266+81A>C
NM_000321.2:c.2663+81A>C , LRG_517t1:c.2663+81A>C	NP_000312.2:n.2663+81A>C
XM_011535171.1:c.2402+81A>C	XP_011533473.1:n.2402+81A>C
XM_011535171.2:c.2402+81A>C	XP_011533473.1:n.2402+81A>C
NM_000321.3:c.2663+81A>C MANE Select	NP_000312.2:n.2663+81A>C