Canonical Allele Identifier: CA388166771

Gene: RB1

Linked Data

• ClinVar Variation Id: 2960455
• ClinVar RCV Id: RCV003817190
• dbSNP Id: rs79200171
• COSMIC: COSM6191574
• MyVariant Identifiers: chr13:g.49033880C>T (hg19) ; chr13:g.48459744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459744C>T , CM000675.2:g.48459744C>T	GRCh38
NC_000013.10:g.49033880C>T , CM000675.1:g.49033880C>T	GRCh37
NC_000013.9:g.47931881C>T	NCBI36
NG_009009.1:g.160998C>T , LRG_517:g.160998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2017C>T MANE Select	ENSP00000267163.4:p.His673Tyr
ENST00000643064.1:c.194+78301C>T
ENST00000650461.1:c.2017C>T	ENSP00000497193.1:p.His673Tyr
ENST00000267163.4:c.2017C>T	ENSP00000267163.4:p.His673Tyr
NM_000321.2:c.2017C>T , LRG_517t1:c.2017C>T	NP_000312.2:p.His673Tyr
XM_011535171.1:c.1756C>T	XP_011533473.1:p.His586Tyr
XM_011535171.2:c.1756C>T	XP_011533473.1:p.His586Tyr
NM_000321.3:c.2017C>T MANE Select	NP_000312.2:p.His673Tyr