Canonical Allele Identifier: CA388166713

Gene: RB1

Linked Data

• dbSNP Id: rs1007286459
• COSMIC: COSM6015335 ; COSM6015336
• MyVariant Identifiers: chr13:g.49033851A>T (hg19) ; chr13:g.48459715A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459715A>T , CM000675.2:g.48459715A>T	GRCh38
NC_000013.10:g.49033851A>T , CM000675.1:g.49033851A>T	GRCh37
NC_000013.9:g.47931852A>T	NCBI36
NG_009009.1:g.160969A>T , LRG_517:g.160969A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1988A>T MANE Select	ENSP00000267163.4:p.Asn663Ile
ENST00000643064.1:c.194+78272A>T
ENST00000650461.1:c.1988A>T	ENSP00000497193.1:p.Asn663Ile
ENST00000267163.4:c.1988A>T	ENSP00000267163.4:p.Asn663Ile
NM_000321.2:c.1988A>T , LRG_517t1:c.1988A>T	NP_000312.2:p.Asn663Ile
XM_011535171.1:c.1727A>T	XP_011533473.1:p.Asn576Ile
XM_011535171.2:c.1727A>T	XP_011533473.1:p.Asn576Ile
NM_000321.3:c.1988A>T MANE Select	NP_000312.2:p.Asn663Ile