Canonical Allele Identifier: CA388161368

Gene: RB1

Linked Data

• dbSNP Id: rs2138123491
• MyVariant Identifiers: chr13:g.48942734C>G (hg19) ; chr13:g.48368598C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48368598C>G , CM000675.2:g.48368598C>G	GRCh38
NC_000013.10:g.48942734C>G , CM000675.1:g.48942734C>G	GRCh37
NC_000013.9:g.47840735C>G	NCBI36
NG_009009.1:g.69852C>G , LRG_517:g.69852C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1121C>G MANE Select	ENSP00000267163.4:p.Pro374Arg
ENST00000650461.1:c.1121C>G	ENSP00000497193.1:p.Pro374Arg
ENST00000267163.4:c.1121C>G	ENSP00000267163.4:p.Pro374Arg
NM_000321.2:c.1121C>G , LRG_517t1:c.1121C>G	NP_000312.2:p.Pro374Arg
XM_011535171.1:c.860C>G	XP_011533473.1:p.Pro287Arg
XM_011535171.2:c.860C>G	XP_011533473.1:p.Pro287Arg
XR_002957522.1:n.122-3622G>C
NM_000321.3:c.1121C>G MANE Select	NP_000312.2:p.Pro374Arg