Canonical Allele Identifier: CA483557512

Gene: RB1

Linked Data

• dbSNP Id: rs1952522475
• MyVariant Identifiers: chr13:g.48923092G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348956G>A , CM000675.2:g.48348956G>A	GRCh38
NC_000013.10:g.48923092G>A , CM000675.1:g.48923092G>A	GRCh37
NC_000013.9:g.47821093G>A	NCBI36
NG_009009.1:g.50210G>A , LRG_517:g.50210G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540G>A MANE Select	ENSP00000267163.4:p.Ser180=
ENST00000650461.1:c.540G>A	ENSP00000497193.1:p.Ser180=
ENST00000267163.4:c.540G>A	ENSP00000267163.4:p.Ser180=
ENST00000467505.5:c.138-11061G>A	ENSP00000434702.1:n.138-11061G>A
ENST00000525036.1:n.702G>A
NM_000321.2:c.540G>A , LRG_517t1:c.540G>A	NP_000312.2:p.Ser180=
XM_011535171.1:c.279G>A	XP_011533473.1:p.Ser93=
XM_011535171.2:c.279G>A	XP_011533473.1:p.Ser93=
NM_000321.3:c.540G>A MANE Select	NP_000312.2:p.Ser180=