Canonical Allele Identifier: CA388166811

Gene: RB1

Linked Data

• ClinVar Variation Id: 2713014
• ClinVar RCV Id: RCV003515737
• dbSNP Id: rs897199998
• MyVariant Identifiers: chr13:g.49033898A>C (hg19) ; chr13:g.48459762A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459762A>C , CM000675.2:g.48459762A>C	GRCh38
NC_000013.10:g.49033898A>C , CM000675.1:g.49033898A>C	GRCh37
NC_000013.9:g.47931899A>C	NCBI36
NG_009009.1:g.161016A>C , LRG_517:g.161016A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2035A>C MANE Select	ENSP00000267163.4:p.Ile679Leu
ENST00000643064.1:c.194+78319A>C
ENST00000650461.1:c.2035A>C	ENSP00000497193.1:p.Ile679Leu
ENST00000267163.4:c.2035A>C	ENSP00000267163.4:p.Ile679Leu
NM_000321.2:c.2035A>C , LRG_517t1:c.2035A>C	NP_000312.2:p.Ile679Leu
XM_011535171.1:c.1774A>C	XP_011533473.1:p.Ile592Leu
XM_011535171.2:c.1774A>C	XP_011533473.1:p.Ile592Leu
NM_000321.3:c.2035A>C MANE Select	NP_000312.2:p.Ile679Leu