Canonical Allele Identifier: CA388156955

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48923129G>A (hg19) ; chr13:g.48348993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348993G>A , CM000675.2:g.48348993G>A	GRCh38
NC_000013.10:g.48923129G>A , CM000675.1:g.48923129G>A	GRCh37
NC_000013.9:g.47821130G>A	NCBI36
NG_009009.1:g.50247G>A , LRG_517:g.50247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.577G>A MANE Select	ENSP00000267163.4:p.Val193Ile
ENST00000650461.1:c.577G>A	ENSP00000497193.1:p.Val193Ile
ENST00000267163.4:c.577G>A	ENSP00000267163.4:p.Val193Ile
ENST00000467505.5:c.138-11024G>A	ENSP00000434702.1:n.138-11024G>A
ENST00000525036.1:n.739G>A
NM_000321.2:c.577G>A , LRG_517t1:c.577G>A	NP_000312.2:p.Val193Ile
XM_011535171.1:c.316G>A	XP_011533473.1:p.Val106Ile
XM_011535171.2:c.316G>A	XP_011533473.1:p.Val106Ile
NM_000321.3:c.577G>A MANE Select	NP_000312.2:p.Val193Ile