Canonical Allele Identifier: CA698690133

Gene: RB1

Linked Data

• dbSNP Id: rs1397453472
• gnomAD v3: 13-48476918-T-C
• gnomAD v4: 13-48476918-T-C
• MyVariant Identifiers: chr13:g.49051054T>C (hg19) ; chr13:g.48476918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476918T>C , CM000675.2:g.48476918T>C	GRCh38
NC_000013.10:g.49051054T>C , CM000675.1:g.49051054T>C	GRCh37
NC_000013.9:g.47949055T>C	NCBI36
NG_009009.1:g.178172T>C , LRG_517:g.178172T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2663+75T>C MANE Select	ENSP00000267163.4:n.2663+75T>C
ENST00000643064.1:c.194+95475T>C
ENST00000650461.1:c.2663+75T>C	ENSP00000497193.1:n.2663+75T>C
ENST00000267163.4:c.2663+75T>C	ENSP00000267163.4:n.2663+75T>C
ENST00000484879.1:n.397+75T>C
ENST00000531171.5:n.266+75T>C
NM_000321.2:c.2663+75T>C , LRG_517t1:c.2663+75T>C	NP_000312.2:n.2663+75T>C
XM_011535171.1:c.2402+75T>C	XP_011533473.1:n.2402+75T>C
XM_011535171.2:c.2402+75T>C	XP_011533473.1:n.2402+75T>C
NM_000321.3:c.2663+75T>C MANE Select	NP_000312.2:n.2663+75T>C