Canonical Allele Identifier: CA10643552

Gene: RB1

Linked Data

• ClinVar Variation Id: 312281
• ClinVar RCV Id: RCV000342520 ; RCV002258873
• dbSNP Id: rs753117180
• gnomAD v2: 13-48877980-G-C
• gnomAD v3: 13-48303844-G-C
• gnomAD v4: 13-48303844-G-C
• MyVariant Identifiers: chr13:g.48877980G>C (hg19) ; chr13:g.48303844G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303844G>C , CM000675.2:g.48303844G>C	GRCh38
NC_000013.10:g.48877980G>C , CM000675.1:g.48877980G>C	GRCh37
NC_000013.9:g.47775981G>C	NCBI36
NG_009009.1:g.5098G>C , LRG_517:g.5098G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.-69G>C MANE Select	ENSP00000267163.4:n.-69G>C
ENST00000646097.1:c.-69G>C	ENSP00000496556.1:n.-69G>C
ENST00000650461.1:c.-69G>C	ENSP00000497193.1:n.-69G>C
ENST00000267163.4:c.-69G>C	ENSP00000267163.4:n.-69G>C
ENST00000467505.5:c.-69G>C	ENSP00000434702.1:n.-69G>C
ENST00000525036.1:n.94G>C
NM_000321.2:c.-69G>C , LRG_517t1:c.-69G>C	NP_000312.2:n.-69G>C
NM_000321.3:c.-69G>C MANE Select	NP_000312.2:n.-69G>C