Canonical Allele Identifier: CA032967

Gene: RB1

Linked Data

• ClinVar Variation Id: 410945
• ClinVar RCV Id: RCV001013560 ; RCV000465473 ; RCV003227760
• dbSNP Id: rs367668687
• ExAC: 13:49030412 G / C
• gnomAD v2: 13-49030412-G-C
• gnomAD v3: 13-48456276-G-C
• gnomAD v4: 13-48456276-G-C
• MyVariant Identifiers: chr13:g.49030412G>C (hg19) ; chr13:g.48456276G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48456276G>C , CM000675.2:g.48456276G>C	GRCh38
NC_000013.10:g.49030412G>C , CM000675.1:g.49030412G>C	GRCh37
NC_000013.9:g.47928413G>C	NCBI36
NG_009009.1:g.157530G>C , LRG_517:g.157530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1887G>C MANE Select	ENSP00000267163.4:p.Glu629Asp
ENST00000643064.1:c.194+74833G>C
ENST00000650461.1:c.1887G>C	ENSP00000497193.1:p.Glu629Asp
ENST00000267163.4:c.1887G>C	ENSP00000267163.4:p.Glu629Asp
ENST00000480491.1:n.586G>C
NM_000321.2:c.1887G>C , LRG_517t1:c.1887G>C	NP_000312.2:p.Glu629Asp
XM_011535171.1:c.1626G>C	XP_011533473.1:p.Glu542Asp
XM_011535171.2:c.1626G>C	XP_011533473.1:p.Glu542Asp
NM_000321.3:c.1887G>C MANE Select	NP_000312.2:p.Glu629Asp