Canonical Allele Identifier: CA388166295

Gene: RB1

Linked Data

• dbSNP Id: rs2138331666
• gnomAD v3: 13-48456345-A-C
• gnomAD v4: 13-48456345-A-C
• MyVariant Identifiers: chr13:g.49030481A>C (hg19) ; chr13:g.48456345A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48456345A>C , CM000675.2:g.48456345A>C	GRCh38
NC_000013.10:g.49030481A>C , CM000675.1:g.49030481A>C	GRCh37
NC_000013.9:g.47928482A>C	NCBI36
NG_009009.1:g.157599A>C , LRG_517:g.157599A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1956A>C MANE Select	ENSP00000267163.4:p.Lys652Asn
ENST00000643064.1:c.194+74902A>C
ENST00000650461.1:c.1956A>C	ENSP00000497193.1:p.Lys652Asn
ENST00000267163.4:c.1956A>C	ENSP00000267163.4:p.Lys652Asn
NM_000321.2:c.1956A>C , LRG_517t1:c.1956A>C	NP_000312.2:p.Lys652Asn
XM_011535171.1:c.1695A>C	XP_011533473.1:p.Lys565Asn
XM_011535171.2:c.1695A>C	XP_011533473.1:p.Lys565Asn
NM_000321.3:c.1956A>C MANE Select	NP_000312.2:p.Lys652Asn