Canonical Allele Identifier: CA249305370

Gene: RB1

Linked Data

• dbSNP Id: rs569118030
• gnomAD v3: 13-48452936-G-A
• gnomAD v4: 13-48452936-G-A
• MyVariant Identifiers: chr13:g.49027072G>A (hg19) ; chr13:g.48452936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48452936G>A , CM000675.2:g.48452936G>A	GRCh38
NC_000013.10:g.49027072G>A , CM000675.1:g.49027072G>A	GRCh37
NC_000013.9:g.47925073G>A	NCBI36
NG_009009.1:g.154190G>A , LRG_517:g.154190G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1696-57G>A MANE Select	ENSP00000267163.4:n.1696-57G>A
ENST00000643064.1:c.194+71493G>A
ENST00000650461.1:c.1696-57G>A	ENSP00000497193.1:n.1696-57G>A
ENST00000267163.4:c.1696-57G>A	ENSP00000267163.4:n.1696-57G>A
ENST00000480491.1:n.395-57G>A
NM_000321.2:c.1696-57G>A , LRG_517t1:c.1696-57G>A	NP_000312.2:n.1696-57G>A
XM_011535171.1:c.1435-57G>A	XP_011533473.1:n.1435-57G>A
XM_011535171.2:c.1435-57G>A	XP_011533473.1:n.1435-57G>A
NM_000321.3:c.1696-57G>A MANE Select	NP_000312.2:n.1696-57G>A