Canonical Allele Identifier: CA249281939

Gene: RB1

Linked Data

• dbSNP Id: rs149620934
• gnomAD v4: 13-48381305-T-G
• MyVariant Identifiers: chr13:g.48955441T>G (hg19) ; chr13:g.48381305T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381305T>G , CM000675.2:g.48381305T>G	GRCh38
NC_000013.10:g.48955441T>G , CM000675.1:g.48955441T>G	GRCh37
NC_000013.9:g.47853442T>G	NCBI36
NG_009009.1:g.82559T>G , LRG_517:g.82559T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1557T>G MANE Select	ENSP00000267163.4:p.Asn519Lys
ENST00000643064.1:c.56T>G
ENST00000650461.1:c.1557T>G	ENSP00000497193.1:p.Asn519Lys
ENST00000267163.4:c.1557T>G	ENSP00000267163.4:p.Asn519Lys
NM_000321.2:c.1557T>G , LRG_517t1:c.1557T>G	NP_000312.2:p.Asn519Lys
XM_011535171.1:c.1296T>G	XP_011533473.1:p.Asn432Lys
XM_011535171.2:c.1296T>G	XP_011533473.1:p.Asn432Lys
NM_000321.3:c.1557T>G MANE Select	NP_000312.2:p.Asn519Lys