Canonical Allele Identifier: CA034862

Gene: RB1

Linked Data

• ClinVar Variation Id: 527923
• ClinVar RCV Id: RCV000632953 ; RCV001014843 ; RCV003459512
• dbSNP Id: rs529366765
• ExAC: 13:49039143 C / T
• gnomAD v2: 13-49039143-C-T
• gnomAD v3: 13-48465007-C-T
• gnomAD v4: 13-48465007-C-T
• MyVariant Identifiers: chr13:g.49039143C>T (hg19) ; chr13:g.48465007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48465007C>T , CM000675.2:g.48465007C>T	GRCh38
NC_000013.10:g.49039143C>T , CM000675.1:g.49039143C>T	GRCh37
NC_000013.9:g.47937144C>T	NCBI36
NG_009009.1:g.166261C>T , LRG_517:g.166261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2221C>T MANE Select	ENSP00000267163.4:p.Arg741Cys
ENST00000643064.1:c.194+83564C>T
ENST00000650461.1:c.2221C>T	ENSP00000497193.1:p.Arg741Cys
ENST00000267163.4:c.2221C>T	ENSP00000267163.4:p.Arg741Cys
NM_000321.2:c.2221C>T , LRG_517t1:c.2221C>T	NP_000312.2:p.Arg741Cys
XM_011535171.1:c.1960C>T	XP_011533473.1:p.Arg654Cys
XM_011535171.2:c.1960C>T	XP_011533473.1:p.Arg654Cys
NM_000321.3:c.2221C>T MANE Select	NP_000312.2:p.Arg741Cys