Canonical Allele Identifier: CA122838

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 13097
• ClinVar RCV Id: RCV000013973 ; RCV000013974 ; RCV001257814 ; RCV001731283 ; RCV001857347
• dbSNP Id: rs137853290
• gnomAD v2: 15-89758364-C-T
• gnomAD v3: 15-89215133-C-T
• gnomAD v4: 15-89215133-C-T
• MyVariant Identifiers: chr15:g.89758364C>T (hg19) ; chr15:g.89215133C>T (hg38)
• PubMed: PMID:9326942 ; PMID:11453974

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89215133C>T , CM000677.2:g.89215133C>T	GRCh38
NC_000015.9:g.89758364C>T , CM000677.1:g.89758364C>T	GRCh37
NC_000015.8:g.87559368C>T	NCBI36
NG_008116.1:g.11559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.452G>A MANE Select	ENSP00000268125.5:p.Arg151Gln
ENST00000268125.9:c.452G>A	ENSP00000268125.5:p.Arg151Gln
ENST00000567787.1:c.*30G>A	ENSP00000457251.1:n.*30G>A
NM_000326.4:c.452G>A	NP_000317.1:p.Arg151Gln
XM_011521870.1:c.452G>A	XP_011520172.1:p.Arg151Gln
XM_011521871.1:c.377G>A	XP_011520173.1:p.Arg126Gln
XM_011521872.1:c.377G>A	XP_011520174.1:p.Arg126Gln
XM_011521870.2:c.452G>A	XP_011520172.1:p.Arg151Gln
XM_017022460.1:c.479G>A	XP_016877949.1:p.Arg160Gln
NM_000326.5:c.452G>A MANE Select	NP_000317.1:p.Arg151Gln