Canonical Allele Identifier: CA2728070641

Gene: RB1

Linked Data

• dbSNP Id: rs2138326822

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48452943G>C , CM000675.2:g.48452943G>C	GRCh38
NC_000013.10:g.49027079G>C , CM000675.1:g.49027079G>C	GRCh37
NC_000013.9:g.47925080G>C	NCBI36
NG_009009.1:g.154197G>C , LRG_517:g.154197G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1696-50G>C MANE Select	ENSP00000267163.4:n.1696-50G>C
ENST00000643064.1:c.194+71500G>C
ENST00000650461.1:c.1696-50G>C	ENSP00000497193.1:n.1696-50G>C
ENST00000267163.4:c.1696-50G>C	ENSP00000267163.4:n.1696-50G>C
ENST00000480491.1:n.395-50G>C
NM_000321.2:c.1696-50G>C , LRG_517t1:c.1696-50G>C	NP_000312.2:n.1696-50G>C
XM_011535171.1:c.1435-50G>C	XP_011533473.1:n.1435-50G>C
XM_011535171.2:c.1435-50G>C	XP_011533473.1:n.1435-50G>C
NM_000321.3:c.1696-50G>C MANE Select	NP_000312.2:n.1696-50G>C