Canonical Allele Identifier: CA039687

Gene: RB1

Linked Data

• dbSNP Id: rs369036872
• ExAC: 13:48939001 T / C
• gnomAD v2: 13-48939001-T-C
• gnomAD v3: 13-48364865-T-C
• gnomAD v4: 13-48364865-T-C
• MyVariant Identifiers: chr13:g.48939001T>C (hg19) ; chr13:g.48364865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364865T>C , CM000675.2:g.48364865T>C	GRCh38
NC_000013.10:g.48939001T>C , CM000675.1:g.48939001T>C	GRCh37
NC_000013.9:g.47837002T>C	NCBI36
NG_009009.1:g.66119T>C , LRG_517:g.66119T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.862-29T>C MANE Select	ENSP00000267163.4:n.862-29T>C
ENST00000650461.1:c.862-29T>C	ENSP00000497193.1:n.862-29T>C
ENST00000267163.4:c.862-29T>C	ENSP00000267163.4:n.862-29T>C
NM_000321.2:c.862-29T>C , LRG_517t1:c.862-29T>C	NP_000312.2:n.862-29T>C
XM_011535171.1:c.601-29T>C	XP_011533473.1:n.601-29T>C
XM_011535171.2:c.601-29T>C	XP_011533473.1:n.601-29T>C
NM_000321.3:c.862-29T>C MANE Select	NP_000312.2:n.862-29T>C