Canonical Allele Identifier: CA388156997

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48923149A>C (hg19) ; chr13:g.48349013A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349013A>C , CM000675.2:g.48349013A>C	GRCh38
NC_000013.10:g.48923149A>C , CM000675.1:g.48923149A>C	GRCh37
NC_000013.9:g.47821150A>C	NCBI36
NG_009009.1:g.50267A>C , LRG_517:g.50267A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.597A>C MANE Select	ENSP00000267163.4:p.Leu199Phe
ENST00000650461.1:c.597A>C	ENSP00000497193.1:p.Leu199Phe
ENST00000267163.4:c.597A>C	ENSP00000267163.4:p.Leu199Phe
ENST00000467505.5:c.138-11004A>C	ENSP00000434702.1:n.138-11004A>C
ENST00000525036.1:n.759A>C
NM_000321.2:c.597A>C , LRG_517t1:c.597A>C	NP_000312.2:p.Leu199Phe
XM_011535171.1:c.336A>C	XP_011533473.1:p.Leu112Phe
XM_011535171.2:c.336A>C	XP_011533473.1:p.Leu112Phe
NM_000321.3:c.597A>C MANE Select	NP_000312.2:p.Leu199Phe