Canonical Allele Identifier: CA388162898

Gene: RB1

Linked Data

• dbSNP Id: rs2138143116
• MyVariant Identifiers: chr13:g.48954364G>C (hg19) ; chr13:g.48380228G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380228G>C , CM000675.2:g.48380228G>C	GRCh38
NC_000013.10:g.48954364G>C , CM000675.1:g.48954364G>C	GRCh37
NC_000013.9:g.47852365G>C	NCBI36
NG_009009.1:g.81482G>C , LRG_517:g.81482G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1485G>C MANE Select	ENSP00000267163.4:p.Met495Ile
ENST00000650461.1:c.1485G>C	ENSP00000497193.1:p.Met495Ile
ENST00000267163.4:c.1485G>C	ENSP00000267163.4:p.Met495Ile
NM_000321.2:c.1485G>C , LRG_517t1:c.1485G>C	NP_000312.2:p.Met495Ile
XM_011535171.1:c.1224G>C	XP_011533473.1:p.Met408Ile
XM_011535171.2:c.1224G>C	XP_011533473.1:p.Met408Ile
NM_000321.3:c.1485G>C MANE Select	NP_000312.2:p.Met495Ile