Canonical Allele Identifier: CA609585358

Gene: RB1

Linked Data

• dbSNP Id: rs1185277340
• gnomAD v2: 13-49039081-C-T
• gnomAD v3: 13-48464945-C-T
• gnomAD v4: 13-48464945-C-T
• MyVariant Identifiers: chr13:g.49039081C>T (hg19) ; chr13:g.48464945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48464945C>T , CM000675.2:g.48464945C>T	GRCh38
NC_000013.10:g.49039081C>T , CM000675.1:g.49039081C>T	GRCh37
NC_000013.9:g.47937082C>T	NCBI36
NG_009009.1:g.166199C>T , LRG_517:g.166199C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.2212-53C>T MANE Select	ENSP00000267163.4:n.2212-53C>T
ENST00000643064.1:c.194+83502C>T
ENST00000650461.1:c.2212-53C>T	ENSP00000497193.1:n.2212-53C>T
ENST00000267163.4:c.2212-53C>T	ENSP00000267163.4:n.2212-53C>T
NM_000321.2:c.2212-53C>T , LRG_517t1:c.2212-53C>T	NP_000312.2:n.2212-53C>T
XM_011535171.1:c.1951-53C>T	XP_011533473.1:n.1951-53C>T
XM_011535171.2:c.1951-53C>T	XP_011533473.1:n.1951-53C>T
NM_000321.3:c.2212-53C>T MANE Select	NP_000312.2:n.2212-53C>T