Canonical Allele Identifier: CA16614018

Gene: RB1

Linked Data

• ClinVar Variation Id: 410941
• ClinVar RCV Id: RCV000457051 ; RCV002402288
• dbSNP Id: rs779045727
• gnomAD v2: 13-49027199-C-G
• gnomAD v3: 13-48453063-C-G
• gnomAD v4: 13-48453063-C-G
• MyVariant Identifiers: chr13:g.49027199C>G (hg19) ; chr13:g.48453063C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48453063C>G , CM000675.2:g.48453063C>G	GRCh38
NC_000013.10:g.49027199C>G , CM000675.1:g.49027199C>G	GRCh37
NC_000013.9:g.47925200C>G	NCBI36
NG_009009.1:g.154317C>G , LRG_517:g.154317C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1766C>G MANE Select	ENSP00000267163.4:p.Ala589Gly
ENST00000643064.1:c.194+71620C>G
ENST00000650461.1:c.1766C>G	ENSP00000497193.1:p.Ala589Gly
ENST00000267163.4:c.1766C>G	ENSP00000267163.4:p.Ala589Gly
ENST00000480491.1:n.465C>G
NM_000321.2:c.1766C>G , LRG_517t1:c.1766C>G	NP_000312.2:p.Ala589Gly
XM_011535171.1:c.1505C>G	XP_011533473.1:p.Ala502Gly
XM_011535171.2:c.1505C>G	XP_011533473.1:p.Ala502Gly
NM_000321.3:c.1766C>G MANE Select	NP_000312.2:p.Ala589Gly