Canonical Allele Identifier: CA388168196

Gene: RB1

Linked Data

• dbSNP Id: rs2138358891
• MyVariant Identifiers: chr13:g.49050845G>C (hg19) ; chr13:g.48476709G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476709G>C , CM000675.2:g.48476709G>C	GRCh38
NC_000013.10:g.49050845G>C , CM000675.1:g.49050845G>C	GRCh37
NC_000013.9:g.47948846G>C	NCBI36
NG_009009.1:g.177963G>C , LRG_517:g.177963G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2529G>C MANE Select	ENSP00000267163.4:p.Glu843Asp
ENST00000643064.1:c.194+95266G>C
ENST00000650461.1:c.2529G>C	ENSP00000497193.1:p.Glu843Asp
ENST00000267163.4:c.2529G>C	ENSP00000267163.4:p.Glu843Asp
ENST00000484879.1:n.263G>C
ENST00000531171.5:n.132G>C
NM_000321.2:c.2529G>C , LRG_517t1:c.2529G>C	NP_000312.2:p.Glu843Asp
XM_011535171.1:c.2268G>C	XP_011533473.1:p.Glu756Asp
XM_011535171.2:c.2268G>C	XP_011533473.1:p.Glu756Asp
NM_000321.3:c.2529G>C MANE Select	NP_000312.2:p.Glu843Asp