Canonical Allele Identifier: CA388161207

Gene: RB1

Linked Data

• ClinVar Variation Id: 1035402
• ClinVar RCV Id: RCV001338265 ; RCV003169590
• dbSNP Id: rs1952727001
• MyVariant Identifiers: chr13:g.48942697C>T (hg19) ; chr13:g.48368561C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48368561C>T , CM000675.2:g.48368561C>T	GRCh38
NC_000013.10:g.48942697C>T , CM000675.1:g.48942697C>T	GRCh37
NC_000013.9:g.47840698C>T	NCBI36
NG_009009.1:g.69815C>T , LRG_517:g.69815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1084C>T MANE Select	ENSP00000267163.4:p.Leu362Phe
ENST00000650461.1:c.1084C>T	ENSP00000497193.1:p.Leu362Phe
ENST00000267163.4:c.1084C>T	ENSP00000267163.4:p.Leu362Phe
NM_000321.2:c.1084C>T , LRG_517t1:c.1084C>T	NP_000312.2:p.Leu362Phe
XM_011535171.1:c.823C>T	XP_011533473.1:p.Leu275Phe
XM_011535171.2:c.823C>T	XP_011533473.1:p.Leu275Phe
XR_002957522.1:n.122-3585G>A
NM_000321.3:c.1084C>T MANE Select	NP_000312.2:p.Leu362Phe