Canonical Allele Identifier: CA388157467

Gene: RB1

Linked Data

• ClinVar Variation Id: 1016796
• ClinVar RCV Id: RCV001315856
• dbSNP Id: rs1949506762
• MyVariant Identifiers: chr13:g.49050928C>T (hg19) ; chr13:g.48476792C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476792C>T , CM000675.2:g.48476792C>T	GRCh38
NC_000013.10:g.49050928C>T , CM000675.1:g.49050928C>T	GRCh37
NC_000013.9:g.47948929C>T	NCBI36
NG_009009.1:g.178046C>T , LRG_517:g.178046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2612C>T MANE Select	ENSP00000267163.4:p.Pro871Leu
ENST00000643064.1:c.194+95349C>T
ENST00000650461.1:c.2612C>T	ENSP00000497193.1:p.Pro871Leu
ENST00000267163.4:c.2612C>T	ENSP00000267163.4:p.Pro871Leu
ENST00000484879.1:n.346C>T
ENST00000531171.5:n.215C>T
NM_000321.2:c.2612C>T , LRG_517t1:c.2612C>T	NP_000312.2:p.Pro871Leu
XM_011535171.1:c.2351C>T	XP_011533473.1:p.Pro784Leu
XM_011535171.2:c.2351C>T	XP_011533473.1:p.Pro784Leu
NM_000321.3:c.2612C>T MANE Select	NP_000312.2:p.Pro871Leu