Canonical Allele Identifier: CA388163997
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1353282
ClinVar RCV Id: RCV001863331
dbSNP Id: rs1948534909
gnomAD v4: 13-48381417-A-C
MyVariant Identifiers: chr13:g.48955553A>C (hg19) chr13:g.48381417A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381417A>C , CM000675.2:g.48381417A>C GRCh38
NC_000013.10:g.48955553A>C , CM000675.1:g.48955553A>C GRCh37
NC_000013.9:g.47853554A>C NCBI36
NG_009009.1:g.82671A>C , LRG_517:g.82671A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1669A>C MANE Select ENSP00000267163.4:p.Ile557Leu
ENST00000643064.1:c.168A>C
ENST00000650461.1:c.1669A>C ENSP00000497193.1:p.Ile557Leu
ENST00000267163.4:c.1669A>C ENSP00000267163.4:p.Ile557Leu
NM_000321.2:c.1669A>C , LRG_517t1:c.1669A>C NP_000312.2:p.Ile557Leu
XM_011535171.1:c.1408A>C XP_011533473.1:p.Ile470Leu
XM_011535171.2:c.1408A>C XP_011533473.1:p.Ile470Leu
NM_000321.3:c.1669A>C MANE Select NP_000312.2:p.Ile557Leu
Search 100 bp 5'
Search 100 bp 3'