Canonical Allele Identifier: CA2622986092

Gene: RB1

Linked Data

• gnomAD v4: 13-48476566-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476566C>T , CM000675.2:g.48476566C>T	GRCh38
NC_000013.10:g.49050702C>T , CM000675.1:g.49050702C>T	GRCh37
NC_000013.9:g.47948703C>T	NCBI36
NG_009009.1:g.177820C>T , LRG_517:g.177820C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2521-135C>T MANE Select	ENSP00000267163.4:n.2521-135C>T
ENST00000643064.1:c.194+95123C>T
ENST00000650461.1:c.2521-135C>T	ENSP00000497193.1:n.2521-135C>T
ENST00000267163.4:c.2521-135C>T	ENSP00000267163.4:n.2521-135C>T
ENST00000484879.1:n.120C>T
ENST00000531171.5:n.123+44C>T
NM_000321.2:c.2521-135C>T , LRG_517t1:c.2521-135C>T	NP_000312.2:n.2521-135C>T
XM_011535171.1:c.2260-135C>T	XP_011533473.1:n.2260-135C>T
XM_011535171.2:c.2260-135C>T	XP_011533473.1:n.2260-135C>T
NM_000321.3:c.2521-135C>T MANE Select	NP_000312.2:n.2521-135C>T