Canonical Allele Identifier: CA388161320

Gene: RB1

Linked Data

• gnomAD v4: 13-48368586-C-G
• MyVariant Identifiers: chr13:g.48942722C>G (hg19) ; chr13:g.48368586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48368586C>G , CM000675.2:g.48368586C>G	GRCh38
NC_000013.10:g.48942722C>G , CM000675.1:g.48942722C>G	GRCh37
NC_000013.9:g.47840723C>G	NCBI36
NG_009009.1:g.69840C>G , LRG_517:g.69840C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1109C>G MANE Select	ENSP00000267163.4:p.Pro370Arg
ENST00000650461.1:c.1109C>G	ENSP00000497193.1:p.Pro370Arg
ENST00000267163.4:c.1109C>G	ENSP00000267163.4:p.Pro370Arg
NM_000321.2:c.1109C>G , LRG_517t1:c.1109C>G	NP_000312.2:p.Pro370Arg
XM_011535171.1:c.848C>G	XP_011533473.1:p.Pro283Arg
XM_011535171.2:c.848C>G	XP_011533473.1:p.Pro283Arg
XR_002957522.1:n.122-3610G>C
NM_000321.3:c.1109C>G MANE Select	NP_000312.2:p.Pro370Arg