Canonical Allele Identifier: CA038705

Gene: RB1

Linked Data

• ClinVar Variation Id: 825704
• ClinVar RCV Id: RCV001034022 ; RCV001024043
• dbSNP Id: rs149703672
• ExAC: 13:48923089 T / C
• gnomAD v2: 13-48923089-T-C
• gnomAD v3: 13-48348953-T-C
• gnomAD v4: 13-48348953-T-C
• MyVariant Identifiers: chr13:g.48923089T>C (hg19) ; chr13:g.48348953T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348953T>C , CM000675.2:g.48348953T>C	GRCh38
NC_000013.10:g.48923089T>C , CM000675.1:g.48923089T>C	GRCh37
NC_000013.9:g.47821090T>C	NCBI36
NG_009009.1:g.50207T>C , LRG_517:g.50207T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-3T>C MANE Select	ENSP00000267163.4:n.540-3T>C
ENST00000650461.1:c.540-3T>C	ENSP00000497193.1:n.540-3T>C
ENST00000267163.4:c.540-3T>C	ENSP00000267163.4:n.540-3T>C
ENST00000467505.5:c.138-11064T>C	ENSP00000434702.1:n.138-11064T>C
ENST00000525036.1:n.702-3T>C
NM_000321.2:c.540-3T>C , LRG_517t1:c.540-3T>C	NP_000312.2:n.540-3T>C
XM_011535171.1:c.279-3T>C	XP_011533473.1:n.279-3T>C
XM_011535171.2:c.279-3T>C	XP_011533473.1:n.279-3T>C
NM_000321.3:c.540-3T>C MANE Select	NP_000312.2:n.540-3T>C