Canonical Allele Identifier: CA483558976

Gene: RB1

Linked Data

• ClinVar Variation Id: 1080096
• ClinVar RCV Id: RCV001395601
• dbSNP Id: rs2138335837
• gnomAD v4: 13-48459698-A-G
• MyVariant Identifiers: chr13:g.49033834A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459698A>G , CM000675.2:g.48459698A>G	GRCh38
NC_000013.10:g.49033834A>G , CM000675.1:g.49033834A>G	GRCh37
NC_000013.9:g.47931835A>G	NCBI36
NG_009009.1:g.160952A>G , LRG_517:g.160952A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1971A>G MANE Select	ENSP00000267163.4:p.Leu657=
ENST00000643064.1:c.194+78255A>G
ENST00000650461.1:c.1971A>G	ENSP00000497193.1:p.Leu657=
ENST00000267163.4:c.1971A>G	ENSP00000267163.4:p.Leu657=
NM_000321.2:c.1971A>G , LRG_517t1:c.1971A>G	NP_000312.2:p.Leu657=
XM_011535171.1:c.1710A>G	XP_011533473.1:p.Leu570=
XM_011535171.2:c.1710A>G	XP_011533473.1:p.Leu570=
NM_000321.3:c.1971A>G MANE Select	NP_000312.2:p.Leu657=