Canonical Allele Identifier: CA028910

Gene: RB1

Linked Data

• dbSNP Id: rs560971404
• ExAC: 13:48954366 C / G
• gnomAD v2: 13-48954366-C-G
• gnomAD v3: 13-48380230-C-G
• gnomAD v4: 13-48380230-C-G
• MyVariant Identifiers: chr13:g.48954366C>G (hg19) ; chr13:g.48380230C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380230C>G , CM000675.2:g.48380230C>G	GRCh38
NC_000013.10:g.48954366C>G , CM000675.1:g.48954366C>G	GRCh37
NC_000013.9:g.47852367C>G	NCBI36
NG_009009.1:g.81484C>G , LRG_517:g.81484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1487C>G MANE Select	ENSP00000267163.4:p.Ala496Gly
ENST00000650461.1:c.1487C>G	ENSP00000497193.1:p.Ala496Gly
ENST00000267163.4:c.1487C>G	ENSP00000267163.4:p.Ala496Gly
NM_000321.2:c.1487C>G , LRG_517t1:c.1487C>G	NP_000312.2:p.Ala496Gly
XM_011535171.1:c.1226C>G	XP_011533473.1:p.Ala409Gly
XM_011535171.2:c.1226C>G	XP_011533473.1:p.Ala409Gly
NM_000321.3:c.1487C>G MANE Select	NP_000312.2:p.Ala496Gly