Canonical Allele Identifier: CA249275340

Gene: RB1

Linked Data

• ClinVar Variation Id: 1579431
• ClinVar RCV Id: RCV002093226
• dbSNP Id: rs1042945773
• gnomAD v2: 13-48939010-T-C
• gnomAD v3: 13-48364874-T-C
• gnomAD v4: 13-48364874-T-C
• MyVariant Identifiers: chr13:g.48939010T>C (hg19) ; chr13:g.48364874T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364874T>C , CM000675.2:g.48364874T>C	GRCh38
NC_000013.10:g.48939010T>C , CM000675.1:g.48939010T>C	GRCh37
NC_000013.9:g.47837011T>C	NCBI36
NG_009009.1:g.66128T>C , LRG_517:g.66128T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.862-20T>C MANE Select	ENSP00000267163.4:n.862-20T>C
ENST00000650461.1:c.862-20T>C	ENSP00000497193.1:n.862-20T>C
ENST00000267163.4:c.862-20T>C	ENSP00000267163.4:n.862-20T>C
NM_000321.2:c.862-20T>C , LRG_517t1:c.862-20T>C	NP_000312.2:n.862-20T>C
XM_011535171.1:c.601-20T>C	XP_011533473.1:n.601-20T>C
XM_011535171.2:c.601-20T>C	XP_011533473.1:n.601-20T>C
NM_000321.3:c.862-20T>C MANE Select	NP_000312.2:n.862-20T>C