Canonical Allele Identifier: CA037942

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48345068T>C , CM000675.2:g.48345068T>C	GRCh38
NC_000013.10:g.48919204T>C , CM000675.1:g.48919204T>C	GRCh37
NC_000013.9:g.47817205T>C	NCBI36
NG_009009.1:g.46322T>C , LRG_517:g.46322T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.381-12T>C MANE Select	NP_000312.2:n.381-12T>C
ENST00000267163.6:c.381-12T>C MANE Select	ENSP00000267163.4:n.381-12T>C
NM_000321.2:c.381-12T>C , LRG_517t1:c.381-12T>C	NP_000312.2:n.381-12T>C
ENST00000267163.4:c.381-12T>C	ENSP00000267163.4:n.381-12T>C
ENST00000467505.5:c.138-14949T>C	ENSP00000434702.1:n.138-14949T>C
ENST00000525036.1:n.543-12T>C
ENST00000650461.1:c.381-12T>C	ENSP00000497193.1:n.381-12T>C
XM_011535171.1:c.120-12T>C	XP_011533473.1:n.120-12T>C
XM_011535171.2:c.120-12T>C	XP_011533473.1:n.120-12T>C