Canonical Allele Identifier: CA033521

Gene: RB1

Linked Data

• dbSNP Id: rs759365746
• ExAC: 13:49033838 T / A
• MyVariant Identifiers: chr13:g.49033838T>A (hg19) ; chr13:g.48459702T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459702T>A , CM000675.2:g.48459702T>A	GRCh38
NC_000013.10:g.49033838T>A , CM000675.1:g.49033838T>A	GRCh37
NC_000013.9:g.47931839T>A	NCBI36
NG_009009.1:g.160956T>A , LRG_517:g.160956T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1975T>A MANE Select	ENSP00000267163.4:p.Tyr659Asn
ENST00000643064.1:c.194+78259T>A
ENST00000650461.1:c.1975T>A	ENSP00000497193.1:p.Tyr659Asn
ENST00000267163.4:c.1975T>A	ENSP00000267163.4:p.Tyr659Asn
NM_000321.2:c.1975T>A , LRG_517t1:c.1975T>A	NP_000312.2:p.Tyr659Asn
XM_011535171.1:c.1714T>A	XP_011533473.1:p.Tyr572Asn
XM_011535171.2:c.1714T>A	XP_011533473.1:p.Tyr572Asn
NM_000321.3:c.1975T>A MANE Select	NP_000312.2:p.Tyr659Asn