Canonical Allele Identifier: CA026445

Gene: RB1

Linked Data

• ClinVar Variation Id: 126807
• ClinVar RCV Id: RCV000114699 ; RCV003237715
• dbSNP Id: rs587778839
• MyVariant Identifiers: chr13:g.49050981T>C (hg19) ; chr13:g.48476845T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476845T>C , CM000675.2:g.48476845T>C	GRCh38
NC_000013.10:g.49050981T>C , CM000675.1:g.49050981T>C	GRCh37
NC_000013.9:g.47948982T>C	NCBI36
NG_009009.1:g.178099T>C , LRG_517:g.178099T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2663+2T>C MANE Select	ENSP00000267163.4:n.2663+2T>C
ENST00000643064.1:c.194+95402T>C
ENST00000650461.1:c.2663+2T>C	ENSP00000497193.1:n.2663+2T>C
ENST00000267163.4:c.2663+2T>C	ENSP00000267163.4:n.2663+2T>C
ENST00000484879.1:n.397+2T>C
ENST00000531171.5:n.266+2T>C
NM_000321.2:c.2663+2T>C , LRG_517t1:c.2663+2T>C	NP_000312.2:n.2663+2T>C
XM_011535171.1:c.2402+2T>C	XP_011533473.1:n.2402+2T>C
XM_011535171.2:c.2402+2T>C	XP_011533473.1:n.2402+2T>C
NM_000321.3:c.2663+2T>C MANE Select	NP_000312.2:n.2663+2T>C