Canonical Allele Identifier: CA388168190

Gene: RB1

Linked Data

• ClinVar Variation Id: 578745
• ClinVar RCV Id: RCV000701850
• dbSNP Id: rs1566240914
• MyVariant Identifiers: chr13:g.49050843G>C (hg19) ; chr13:g.48476707G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476707G>C , CM000675.2:g.48476707G>C	GRCh38
NC_000013.10:g.49050843G>C , CM000675.1:g.49050843G>C	GRCh37
NC_000013.9:g.47948844G>C	NCBI36
NG_009009.1:g.177961G>C , LRG_517:g.177961G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2527G>C MANE Select	ENSP00000267163.4:p.Glu843Gln
ENST00000643064.1:c.194+95264G>C
ENST00000650461.1:c.2527G>C	ENSP00000497193.1:p.Glu843Gln
ENST00000267163.4:c.2527G>C	ENSP00000267163.4:p.Glu843Gln
ENST00000484879.1:n.261G>C
ENST00000531171.5:n.130G>C
NM_000321.2:c.2527G>C , LRG_517t1:c.2527G>C	NP_000312.2:p.Glu843Gln
XM_011535171.1:c.2266G>C	XP_011533473.1:p.Glu756Gln
XM_011535171.2:c.2266G>C	XP_011533473.1:p.Glu756Gln
NM_000321.3:c.2527G>C MANE Select	NP_000312.2:p.Glu843Gln