Canonical Allele Identifier: CA249846137

Gene: RB1

Linked Data

• dbSNP Id: rs1040038478
• gnomAD v3: 13-48342525-T-C
• gnomAD v4: 13-48342525-T-C
• MyVariant Identifiers: chr13:g.48916661T>C (hg19) ; chr13:g.48342525T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342525T>C , CM000675.2:g.48342525T>C	GRCh38
NC_000013.10:g.48916661T>C , CM000675.1:g.48916661T>C	GRCh37
NC_000013.9:g.47814662T>C	NCBI36
NG_009009.1:g.43779T>C , LRG_517:g.43779T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.265-74T>C MANE Select	ENSP00000267163.4:n.265-74T>C
ENST00000650461.1:c.265-74T>C	ENSP00000497193.1:n.265-74T>C
ENST00000267163.4:c.265-74T>C	ENSP00000267163.4:n.265-74T>C
ENST00000467505.5:c.138-17492T>C	ENSP00000434702.1:n.138-17492T>C
ENST00000525036.1:n.427-74T>C
NM_000321.2:c.265-74T>C , LRG_517t1:c.265-74T>C	NP_000312.2:n.265-74T>C
XM_011535171.1:c.4-74T>C	XP_011533473.1:n.4-74T>C
XM_011535171.2:c.4-74T>C	XP_011533473.1:n.4-74T>C
NM_000321.3:c.265-74T>C MANE Select	NP_000312.2:n.265-74T>C