Canonical Allele Identifier: CA036153

Gene: RB1

Linked Data

• ClinVar Variation Id: 428729
• ClinVar RCV Id: RCV000492628 ; RCV001395329
• dbSNP Id: rs148327780
• ExAC: 13:49050875 T / C
• gnomAD v2: 13-49050875-T-C
• gnomAD v3: 13-48476739-T-C
• gnomAD v4: 13-48476739-T-C
• MyVariant Identifiers: chr13:g.49050875T>C (hg19) ; chr13:g.48476739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476739T>C , CM000675.2:g.48476739T>C	GRCh38
NC_000013.10:g.49050875T>C , CM000675.1:g.49050875T>C	GRCh37
NC_000013.9:g.47948876T>C	NCBI36
NG_009009.1:g.177993T>C , LRG_517:g.177993T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2559T>C MANE Select	ENSP00000267163.4:p.Cys853=
ENST00000643064.1:c.194+95296T>C
ENST00000650461.1:c.2559T>C	ENSP00000497193.1:p.Cys853=
ENST00000267163.4:c.2559T>C	ENSP00000267163.4:p.Cys853=
ENST00000484879.1:n.293T>C
ENST00000531171.5:n.162T>C
NM_000321.2:c.2559T>C , LRG_517t1:c.2559T>C	NP_000312.2:p.Cys853=
XM_011535171.1:c.2298T>C	XP_011533473.1:p.Cys766=
XM_011535171.2:c.2298T>C	XP_011533473.1:p.Cys766=
NM_000321.3:c.2559T>C MANE Select	NP_000312.2:p.Cys853=