Canonical Allele Identifier: CA609572730

Gene: RB1

Linked Data

• dbSNP Id: rs1443391204
• gnomAD v2: 13-48922800-A-G
• gnomAD v3: 13-48348664-A-G
• gnomAD v4: 13-48348664-A-G
• MyVariant Identifiers: chr13:g.48922800A>G (hg19) ; chr13:g.48348664A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348664A>G , CM000675.2:g.48348664A>G	GRCh38
NC_000013.10:g.48922800A>G , CM000675.1:g.48922800A>G	GRCh37
NC_000013.9:g.47820801A>G	NCBI36
NG_009009.1:g.49918A>G , LRG_517:g.49918A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.540-292A>G MANE Select	ENSP00000267163.4:n.540-292A>G
ENST00000650461.1:c.540-292A>G	ENSP00000497193.1:n.540-292A>G
ENST00000267163.4:c.540-292A>G	ENSP00000267163.4:n.540-292A>G
ENST00000467505.5:c.138-11353A>G	ENSP00000434702.1:n.138-11353A>G
ENST00000525036.1:n.702-292A>G
NM_000321.2:c.540-292A>G , LRG_517t1:c.540-292A>G	NP_000312.2:n.540-292A>G
XM_011535171.1:c.279-292A>G	XP_011533473.1:n.279-292A>G
XM_011535171.2:c.279-292A>G	XP_011533473.1:n.279-292A>G
NM_000321.3:c.540-292A>G MANE Select	NP_000312.2:n.540-292A>G