Canonical Allele Identifier: CA388156944

Gene: RB1

Linked Data

• gnomAD v4: 13-48348988-T-C
• MyVariant Identifiers: chr13:g.48923124T>C (hg19) ; chr13:g.48348988T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348988T>C , CM000675.2:g.48348988T>C	GRCh38
NC_000013.10:g.48923124T>C , CM000675.1:g.48923124T>C	GRCh37
NC_000013.9:g.47821125T>C	NCBI36
NG_009009.1:g.50242T>C , LRG_517:g.50242T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.572T>C MANE Select	ENSP00000267163.4:p.Leu191Pro
ENST00000650461.1:c.572T>C	ENSP00000497193.1:p.Leu191Pro
ENST00000267163.4:c.572T>C	ENSP00000267163.4:p.Leu191Pro
ENST00000467505.5:c.138-11029T>C	ENSP00000434702.1:n.138-11029T>C
ENST00000525036.1:n.734T>C
NM_000321.2:c.572T>C , LRG_517t1:c.572T>C	NP_000312.2:p.Leu191Pro
XM_011535171.1:c.311T>C	XP_011533473.1:p.Leu104Pro
XM_011535171.2:c.311T>C	XP_011533473.1:p.Leu104Pro
NM_000321.3:c.572T>C MANE Select	NP_000312.2:p.Leu191Pro