Canonical Allele Identifier: CA388252355

Gene: RB1

Linked Data

• MyVariant Identifiers: chr13:g.48916755A>C (hg19) ; chr13:g.48342619A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48342619A>C , CM000675.2:g.48342619A>C	GRCh38
NC_000013.10:g.48916755A>C , CM000675.1:g.48916755A>C	GRCh37
NC_000013.9:g.47814756A>C	NCBI36
NG_009009.1:g.43873A>C , LRG_517:g.43873A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.285A>C MANE Select	ENSP00000267163.4:p.Lys95Asn
ENST00000650461.1:c.285A>C	ENSP00000497193.1:p.Lys95Asn
ENST00000267163.4:c.285A>C	ENSP00000267163.4:p.Lys95Asn
ENST00000467505.5:c.138-17398A>C	ENSP00000434702.1:n.138-17398A>C
ENST00000525036.1:n.447A>C
NM_000321.2:c.285A>C , LRG_517t1:c.285A>C	NP_000312.2:p.Lys95Asn
XM_011535171.1:c.24A>C	XP_011533473.1:p.Lys8Asn
XM_011535171.2:c.24A>C	XP_011533473.1:p.Lys8Asn
NM_000321.3:c.285A>C MANE Select	NP_000312.2:p.Lys95Asn