Canonical Allele Identifier: CA028837

Gene: RB1

Linked Data

• ClinVar Variation Id: 458124
• ClinVar RCV Id: RCV000550618 ; RCV002395309
• dbSNP Id: rs780248969
• ExAC: 13:48954342 C / T
• gnomAD v2: 13-48954342-C-T
• gnomAD v3: 13-48380206-C-T
• gnomAD v4: 13-48380206-C-T
• COSMIC: COSM254915 ; COSM1587097
• MyVariant Identifiers: chr13:g.48954342C>T (hg19) ; chr13:g.48380206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380206C>T , CM000675.2:g.48380206C>T	GRCh38
NC_000013.10:g.48954342C>T , CM000675.1:g.48954342C>T	GRCh37
NC_000013.9:g.47852343C>T	NCBI36
NG_009009.1:g.81460C>T , LRG_517:g.81460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1463C>T MANE Select	ENSP00000267163.4:p.Ala488Val
ENST00000650461.1:c.1463C>T	ENSP00000497193.1:p.Ala488Val
ENST00000267163.4:c.1463C>T	ENSP00000267163.4:p.Ala488Val
NM_000321.2:c.1463C>T , LRG_517t1:c.1463C>T	NP_000312.2:p.Ala488Val
XM_011535171.1:c.1202C>T	XP_011533473.1:p.Ala401Val
XM_011535171.2:c.1202C>T	XP_011533473.1:p.Ala401Val
NM_000321.3:c.1463C>T MANE Select	NP_000312.2:p.Ala488Val