Canonical Allele Identifier: CA035332

Gene: RB1

Linked Data

• ClinVar Variation Id: 458145
• ClinVar RCV Id: RCV000528489 ; RCV000761011 ; RCV001015131
• dbSNP Id: rs754507551
• ExAC: 13:49039371 C / T
• gnomAD v2: 13-49039371-C-T
• gnomAD v3: 13-48465235-C-T
• gnomAD v4: 13-48465235-C-T
• COSMIC: COSM4384828 ; COSM4384829
• MyVariant Identifiers: chr13:g.49039371C>T (hg19) ; chr13:g.48465235C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48465235C>T , CM000675.2:g.48465235C>T	GRCh38
NC_000013.10:g.49039371C>T , CM000675.1:g.49039371C>T	GRCh37
NC_000013.9:g.47937372C>T	NCBI36
NG_009009.1:g.166489C>T , LRG_517:g.166489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2356C>T MANE Select	ENSP00000267163.4:p.Pro786Ser
ENST00000643064.1:c.194+83792C>T
ENST00000650461.1:c.2356C>T	ENSP00000497193.1:p.Pro786Ser
ENST00000267163.4:c.2356C>T	ENSP00000267163.4:p.Pro786Ser
NM_000321.2:c.2356C>T , LRG_517t1:c.2356C>T	NP_000312.2:p.Pro786Ser
XM_011535171.1:c.2095C>T	XP_011533473.1:p.Pro699Ser
XM_011535171.2:c.2095C>T	XP_011533473.1:p.Pro699Ser
NM_000321.3:c.2356C>T MANE Select	NP_000312.2:p.Pro786Ser