Canonical Allele Identifier: CA388166817

Gene: RB1

Linked Data

• dbSNP Id: rs1422900655
• gnomAD v4: 13-48459765-A-C
• MyVariant Identifiers: chr13:g.49033901A>C (hg19) ; chr13:g.48459765A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459765A>C , CM000675.2:g.48459765A>C	GRCh38
NC_000013.10:g.49033901A>C , CM000675.1:g.49033901A>C	GRCh37
NC_000013.9:g.47931902A>C	NCBI36
NG_009009.1:g.161019A>C , LRG_517:g.161019A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2038A>C MANE Select	ENSP00000267163.4:p.Ile680Leu
ENST00000643064.1:c.194+78322A>C
ENST00000650461.1:c.2038A>C	ENSP00000497193.1:p.Ile680Leu
ENST00000267163.4:c.2038A>C	ENSP00000267163.4:p.Ile680Leu
NM_000321.2:c.2038A>C , LRG_517t1:c.2038A>C	NP_000312.2:p.Ile680Leu
XM_011535171.1:c.1777A>C	XP_011533473.1:p.Ile593Leu
XM_011535171.2:c.1777A>C	XP_011533473.1:p.Ile593Leu
NM_000321.3:c.2038A>C MANE Select	NP_000312.2:p.Ile680Leu