Canonical Allele Identifier: CA249308000

Gene: RB1

Linked Data

• dbSNP Id: rs372455509
• MyVariant Identifiers: chr13:g.49033534C>T (hg19) ; chr13:g.48459398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459398C>T , CM000675.2:g.48459398C>T	GRCh38
NC_000013.10:g.49033534C>T , CM000675.1:g.49033534C>T	GRCh37
NC_000013.9:g.47931535C>T	NCBI36
NG_009009.1:g.160652C>T , LRG_517:g.160652C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1961-290C>T MANE Select	ENSP00000267163.4:n.1961-290C>T
ENST00000643064.1:c.194+77955C>T
ENST00000650461.1:c.1961-290C>T	ENSP00000497193.1:n.1961-290C>T
ENST00000267163.4:c.1961-290C>T	ENSP00000267163.4:n.1961-290C>T
NM_000321.2:c.1961-290C>T , LRG_517t1:c.1961-290C>T	NP_000312.2:n.1961-290C>T
XM_011535171.1:c.1700-290C>T	XP_011533473.1:n.1700-290C>T
XM_011535171.2:c.1700-290C>T	XP_011533473.1:n.1700-290C>T
NM_000321.3:c.1961-290C>T MANE Select	NP_000312.2:n.1961-290C>T