Canonical Allele Identifier: CA388163834
Gene: RB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48955515G>C (hg19) chr13:g.48381379G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381379G>C , CM000675.2:g.48381379G>C GRCh38
NC_000013.10:g.48955515G>C , CM000675.1:g.48955515G>C GRCh37
NC_000013.9:g.47853516G>C NCBI36
NG_009009.1:g.82633G>C , LRG_517:g.82633G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1631G>C MANE Select ENSP00000267163.4:p.Arg544Thr
ENST00000643064.1:c.130G>C
ENST00000650461.1:c.1631G>C ENSP00000497193.1:p.Arg544Thr
ENST00000267163.4:c.1631G>C ENSP00000267163.4:p.Arg544Thr
NM_000321.2:c.1631G>C , LRG_517t1:c.1631G>C NP_000312.2:p.Arg544Thr
XM_011535171.1:c.1370G>C XP_011533473.1:p.Arg457Thr
XM_011535171.2:c.1370G>C XP_011533473.1:p.Arg457Thr
NM_000321.3:c.1631G>C MANE Select NP_000312.2:p.Arg544Thr
Search 100 bp 5'
Search 100 bp 3'