Canonical Allele Identifier: CA388166667
Gene: RB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459686A>C , CM000675.2:g.48459686A>C GRCh38
NC_000013.10:g.49033822A>C , CM000675.1:g.49033822A>C GRCh37
NC_000013.9:g.47931823A>C NCBI36
NG_009009.1:g.160940A>C , LRG_517:g.160940A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1961-2A>C MANE Select ENSP00000267163.4:n.1961-2A>C
ENST00000643064.1:c.194+78243A>C
ENST00000650461.1:c.1961-2A>C ENSP00000497193.1:n.1961-2A>C
ENST00000267163.4:c.1961-2A>C ENSP00000267163.4:n.1961-2A>C
NM_000321.2:c.1961-2A>C , LRG_517t1:c.1961-2A>C NP_000312.2:n.1961-2A>C
XM_011535171.1:c.1700-2A>C XP_011533473.1:n.1700-2A>C
XM_011535171.2:c.1700-2A>C XP_011533473.1:n.1700-2A>C
NM_000321.3:c.1961-2A>C MANE Select NP_000312.2:n.1961-2A>C