Canonical Allele Identifier: CA2727891522
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1949382273
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459511C>T , CM000675.2:g.48459511C>T GRCh38
NC_000013.10:g.49033647C>T , CM000675.1:g.49033647C>T GRCh37
NC_000013.9:g.47931648C>T NCBI36
NG_009009.1:g.160765C>T , LRG_517:g.160765C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1961-177C>T MANE Select ENSP00000267163.4:n.1961-177C>T
ENST00000643064.1:c.194+78068C>T
ENST00000650461.1:c.1961-177C>T ENSP00000497193.1:n.1961-177C>T
ENST00000267163.4:c.1961-177C>T ENSP00000267163.4:n.1961-177C>T
NM_000321.2:c.1961-177C>T , LRG_517t1:c.1961-177C>T NP_000312.2:n.1961-177C>T
XM_011535171.1:c.1700-177C>T XP_011533473.1:n.1700-177C>T
XM_011535171.2:c.1700-177C>T XP_011533473.1:n.1700-177C>T
NM_000321.3:c.1961-177C>T MANE Select NP_000312.2:n.1961-177C>T
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