Canonical Allele Identifier: CA388168204

Gene: RB1

Linked Data

• dbSNP Id: rs2138358920
• gnomAD v4: 13-48476712-G-C
• MyVariant Identifiers: chr13:g.49050848G>C (hg19) ; chr13:g.48476712G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476712G>C , CM000675.2:g.48476712G>C	GRCh38
NC_000013.10:g.49050848G>C , CM000675.1:g.49050848G>C	GRCh37
NC_000013.9:g.47948849G>C	NCBI36
NG_009009.1:g.177966G>C , LRG_517:g.177966G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2532G>C MANE Select	ENSP00000267163.4:p.Lys844Asn
ENST00000643064.1:c.194+95269G>C
ENST00000650461.1:c.2532G>C	ENSP00000497193.1:p.Lys844Asn
ENST00000267163.4:c.2532G>C	ENSP00000267163.4:p.Lys844Asn
ENST00000484879.1:n.266G>C
ENST00000531171.5:n.135G>C
NM_000321.2:c.2532G>C , LRG_517t1:c.2532G>C	NP_000312.2:p.Lys844Asn
XM_011535171.1:c.2271G>C	XP_011533473.1:p.Lys757Asn
XM_011535171.2:c.2271G>C	XP_011533473.1:p.Lys757Asn
NM_000321.3:c.2532G>C MANE Select	NP_000312.2:p.Lys844Asn