Canonical Allele Identifier: CA388166793

Gene: RB1

Linked Data

• ClinVar Variation Id: 584872
• ClinVar RCV Id: RCV000709348 ; RCV004026781
• dbSNP Id: rs1566235448
• MyVariant Identifiers: chr13:g.49033890T>C (hg19) ; chr13:g.48459754T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459754T>C , CM000675.2:g.48459754T>C	GRCh38
NC_000013.10:g.49033890T>C , CM000675.1:g.49033890T>C	GRCh37
NC_000013.9:g.47931891T>C	NCBI36
NG_009009.1:g.161008T>C , LRG_517:g.161008T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2027T>C MANE Select	ENSP00000267163.4:p.Leu676Ser
ENST00000643064.1:c.194+78311T>C
ENST00000650461.1:c.2027T>C	ENSP00000497193.1:p.Leu676Ser
ENST00000267163.4:c.2027T>C	ENSP00000267163.4:p.Leu676Ser
NM_000321.2:c.2027T>C , LRG_517t1:c.2027T>C	NP_000312.2:p.Leu676Ser
XM_011535171.1:c.1766T>C	XP_011533473.1:p.Leu589Ser
XM_011535171.2:c.1766T>C	XP_011533473.1:p.Leu589Ser
NM_000321.3:c.2027T>C MANE Select	NP_000312.2:p.Leu676Ser