Canonical Allele Identifier: CA609572728

Gene: RB1

Linked Data

• dbSNP Id: rs1243324509
• gnomAD v2: 13-48922743-T-G
• gnomAD v3: 13-48348607-T-G
• gnomAD v4: 13-48348607-T-G
• MyVariant Identifiers: chr13:g.48922743T>G (hg19) ; chr13:g.48348607T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348607T>G , CM000675.2:g.48348607T>G	GRCh38
NC_000013.10:g.48922743T>G , CM000675.1:g.48922743T>G	GRCh37
NC_000013.9:g.47820744T>G	NCBI36
NG_009009.1:g.49861T>G , LRG_517:g.49861T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-349T>G MANE Select	ENSP00000267163.4:n.540-349T>G
ENST00000650461.1:c.540-349T>G	ENSP00000497193.1:n.540-349T>G
ENST00000267163.4:c.540-349T>G	ENSP00000267163.4:n.540-349T>G
ENST00000467505.5:c.138-11410T>G	ENSP00000434702.1:n.138-11410T>G
ENST00000525036.1:n.702-349T>G
NM_000321.2:c.540-349T>G , LRG_517t1:c.540-349T>G	NP_000312.2:n.540-349T>G
XM_011535171.1:c.279-349T>G	XP_011533473.1:n.279-349T>G
XM_011535171.2:c.279-349T>G	XP_011533473.1:n.279-349T>G
NM_000321.3:c.540-349T>G MANE Select	NP_000312.2:n.540-349T>G