Canonical Allele Identifier: CA032650

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48453122T>C , CM000675.2:g.48453122T>C	GRCh38
NC_000013.10:g.49027258T>C , CM000675.1:g.49027258T>C	GRCh37
NC_000013.9:g.47925259T>C	NCBI36
NG_009009.1:g.154376T>C , LRG_517:g.154376T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.1814+11T>C MANE Select	NP_000312.2:n.1814+11T>C
ENST00000267163.6:c.1814+11T>C MANE Select	ENSP00000267163.4:n.1814+11T>C
NM_000321.2:c.1814+11T>C , LRG_517t1:c.1814+11T>C	NP_000312.2:n.1814+11T>C
ENST00000267163.4:c.1814+11T>C	ENSP00000267163.4:n.1814+11T>C
ENST00000480491.1:n.513+11T>C
ENST00000643064.1:c.194+71679T>C
ENST00000650461.1:c.1814+11T>C	ENSP00000497193.1:n.1814+11T>C
XM_011535171.1:c.1553+11T>C	XP_011533473.1:n.1553+11T>C
XM_011535171.2:c.1553+11T>C	XP_011533473.1:n.1553+11T>C