Canonical Allele Identifier: CA388156959

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48923132T>G (hg19) ; chr13:g.48348996T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348996T>G , CM000675.2:g.48348996T>G	GRCh38
NC_000013.10:g.48923132T>G , CM000675.1:g.48923132T>G	GRCh37
NC_000013.9:g.47821133T>G	NCBI36
NG_009009.1:g.50250T>G , LRG_517:g.50250T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.580T>G MANE Select	ENSP00000267163.4:p.Ser194Ala
ENST00000650461.1:c.580T>G	ENSP00000497193.1:p.Ser194Ala
ENST00000267163.4:c.580T>G	ENSP00000267163.4:p.Ser194Ala
ENST00000467505.5:c.138-11021T>G	ENSP00000434702.1:n.138-11021T>G
ENST00000525036.1:n.742T>G
NM_000321.2:c.580T>G , LRG_517t1:c.580T>G	NP_000312.2:p.Ser194Ala
XM_011535171.1:c.319T>G	XP_011533473.1:p.Ser107Ala
XM_011535171.2:c.319T>G	XP_011533473.1:p.Ser107Ala
NM_000321.3:c.580T>G MANE Select	NP_000312.2:p.Ser194Ala