Canonical Allele Identifier: CA038852
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 458173
ClinVar RCV Id: RCV000546642 RCV001024450
dbSNP Id: rs538578527
ExAC: 13:48923123 C / T
gnomAD v2: 13-48923123-C-T
gnomAD v3: 13-48348987-C-T
gnomAD v4: 13-48348987-C-T
MyVariant Identifiers: chr13:g.48923123C>T (hg19) chr13:g.48348987C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348987C>T , CM000675.2:g.48348987C>T GRCh38
NC_000013.10:g.48923123C>T , CM000675.1:g.48923123C>T GRCh37
NC_000013.9:g.47821124C>T NCBI36
NG_009009.1:g.50241C>T , LRG_517:g.50241C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.571C>T MANE Select ENSP00000267163.4:p.Leu191=
ENST00000650461.1:c.571C>T ENSP00000497193.1:p.Leu191=
ENST00000267163.4:c.571C>T ENSP00000267163.4:p.Leu191=
ENST00000467505.5:c.138-11030C>T ENSP00000434702.1:n.138-11030C>T
ENST00000525036.1:n.733C>T
NM_000321.2:c.571C>T , LRG_517t1:c.571C>T NP_000312.2:p.Leu191=
XM_011535171.1:c.310C>T XP_011533473.1:p.Leu104=
XM_011535171.2:c.310C>T XP_011533473.1:p.Leu104=
NM_000321.3:c.571C>T MANE Select NP_000312.2:p.Leu191=
Search 100 bp 5'
Search 100 bp 3'