Canonical Allele Identifier: CA483558997

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.49033861T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459725T>C , CM000675.2:g.48459725T>C	GRCh38
NC_000013.10:g.49033861T>C , CM000675.1:g.49033861T>C	GRCh37
NC_000013.9:g.47931862T>C	NCBI36
NG_009009.1:g.160979T>C , LRG_517:g.160979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1998T>C MANE Select	ENSP00000267163.4:p.Cys666=
ENST00000643064.1:c.194+78282T>C
ENST00000650461.1:c.1998T>C	ENSP00000497193.1:p.Cys666=
ENST00000267163.4:c.1998T>C	ENSP00000267163.4:p.Cys666=
NM_000321.2:c.1998T>C , LRG_517t1:c.1998T>C	NP_000312.2:p.Cys666=
XM_011535171.1:c.1737T>C	XP_011533473.1:p.Cys579=
XM_011535171.2:c.1737T>C	XP_011533473.1:p.Cys579=
NM_000321.3:c.1998T>C MANE Select	NP_000312.2:p.Cys666=