Canonical Allele Identifier: CA388160111

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48939109T>G (hg19) ; chr13:g.48364973T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364973T>G , CM000675.2:g.48364973T>G	GRCh38
NC_000013.10:g.48939109T>G , CM000675.1:g.48939109T>G	GRCh37
NC_000013.9:g.47837110T>G	NCBI36
NG_009009.1:g.66227T>G , LRG_517:g.66227T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.939+2T>G MANE Select	ENSP00000267163.4:n.939+2T>G
ENST00000650461.1:c.939+2T>G	ENSP00000497193.1:n.939+2T>G
ENST00000267163.4:c.939+2T>G	ENSP00000267163.4:n.939+2T>G
NM_000321.2:c.939+2T>G , LRG_517t1:c.939+2T>G	NP_000312.2:n.939+2T>G
XM_011535171.1:c.678+2T>G	XP_011533473.1:n.678+2T>G
XM_011535171.2:c.678+2T>G	XP_011533473.1:n.678+2T>G
XR_002957522.1:n.125A>C
NM_000321.3:c.939+2T>G MANE Select	NP_000312.2:n.939+2T>G