Canonical Allele Identifier: CA388165432

Gene: RB1

Linked Data

• ClinVar Variation Id: 2698553
• ClinVar RCV Id: RCV003515319
• dbSNP Id: rs137853292
• MyVariant Identifiers: chr13:g.49027133C>G (hg19) ; chr13:g.48452997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48452997C>G , CM000675.2:g.48452997C>G	GRCh38
NC_000013.10:g.49027133C>G , CM000675.1:g.49027133C>G	GRCh37
NC_000013.9:g.47925134C>G	NCBI36
NG_009009.1:g.154251C>G , LRG_517:g.154251C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1700C>G MANE Select	ENSP00000267163.4:p.Ser567Ter
ENST00000643064.1:c.194+71554C>G
ENST00000650461.1:c.1700C>G	ENSP00000497193.1:p.Ser567Ter
ENST00000267163.4:c.1700C>G	ENSP00000267163.4:p.Ser567Ter
ENST00000480491.1:n.399C>G
NM_000321.2:c.1700C>G , LRG_517t1:c.1700C>G	NP_000312.2:p.Ser567Ter
XM_011535171.1:c.1439C>G	XP_011533473.1:p.Ser480Ter
XM_011535171.2:c.1439C>G	XP_011533473.1:p.Ser480Ter
NM_000321.3:c.1700C>G MANE Select	NP_000312.2:p.Ser567Ter