Canonical Allele Identifier: CA388166893

Gene: RB1

Linked Data

• ClinVar Variation Id: 2997517
• ClinVar RCV Id: RCV003854116
• dbSNP Id: rs2138336349
• MyVariant Identifiers: chr13:g.49033933T>A (hg19) ; chr13:g.48459797T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459797T>A , CM000675.2:g.48459797T>A	GRCh38
NC_000013.10:g.49033933T>A , CM000675.1:g.49033933T>A	GRCh37
NC_000013.9:g.47931934T>A	NCBI36
NG_009009.1:g.161051T>A , LRG_517:g.161051T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2070T>A MANE Select	ENSP00000267163.4:p.Asn690Lys
ENST00000643064.1:c.194+78354T>A
ENST00000650461.1:c.2070T>A	ENSP00000497193.1:p.Asn690Lys
ENST00000267163.4:c.2070T>A	ENSP00000267163.4:p.Asn690Lys
NM_000321.2:c.2070T>A , LRG_517t1:c.2070T>A	NP_000312.2:p.Asn690Lys
XM_011535171.1:c.1809T>A	XP_011533473.1:p.Asn603Lys
XM_011535171.2:c.1809T>A	XP_011533473.1:p.Asn603Lys
NM_000321.3:c.2070T>A MANE Select	NP_000312.2:p.Asn690Lys