Canonical Allele Identifier: CA658798145

Gene: RB1

Linked Data

• ClinVar Variation Id: 527915
• ClinVar RCV Id: RCV000632944
• dbSNP Id: rs1555285148
• MyVariant Identifiers: chr13:g.48939110A>T (hg19) ; chr13:g.48364974A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364974A>T , CM000675.2:g.48364974A>T	GRCh38
NC_000013.10:g.48939110A>T , CM000675.1:g.48939110A>T	GRCh37
NC_000013.9:g.47837111A>T	NCBI36
NG_009009.1:g.66228A>T , LRG_517:g.66228A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.939+3A>T MANE Select	ENSP00000267163.4:n.939+3A>T
ENST00000650461.1:c.939+3A>T	ENSP00000497193.1:n.939+3A>T
ENST00000267163.4:c.939+3A>T	ENSP00000267163.4:n.939+3A>T
NM_000321.2:c.939+3A>T , LRG_517t1:c.939+3A>T	NP_000312.2:n.939+3A>T
XM_011535171.1:c.678+3A>T	XP_011533473.1:n.678+3A>T
XM_011535171.2:c.678+3A>T	XP_011533473.1:n.678+3A>T
XR_002957522.1:n.124T>A
NM_000321.3:c.939+3A>T MANE Select	NP_000312.2:n.939+3A>T