Canonical Allele Identifier: CA388166316

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48456349G>T , CM000675.2:g.48456349G>T	GRCh38
NC_000013.10:g.49030485G>T , CM000675.1:g.49030485G>T	GRCh37
NC_000013.9:g.47928486G>T	NCBI36
NG_009009.1:g.157603G>T , LRG_517:g.157603G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000321.3:c.1960G>T MANE Select	NP_000312.2:p.Val654Leu
ENST00000267163.6:c.1960G>T MANE Select	ENSP00000267163.4:p.Val654Leu
NM_000321.2:c.1960G>T , LRG_517t1:c.1960G>T	NP_000312.2:p.Val654Leu
ENST00000267163.4:c.1960G>T	ENSP00000267163.4:p.Val654Leu
ENST00000643064.1:c.194+74906G>T
ENST00000650461.1:c.1960G>T	ENSP00000497193.1:p.Val654Leu
XM_011535171.1:c.1699G>T	XP_011533473.1:p.Val567Leu
XM_011535171.2:c.1699G>T	XP_011533473.1:p.Val567Leu