Canonical Allele Identifier: CA122839

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 13100
• ClinVar RCV Id: RCV000013979 ; RCV000013978 ; RCV000345884 ; RCV001003174 ; RCV001387783 ; RCV003887865
• dbSNP Id: rs28933990
• ExAC: 15:89754025 G / A
• gnomAD v2: 15-89754025-G-A
• gnomAD v4: 15-89210794-G-A
• MyVariant Identifiers: chr15:g.89754025G>A (hg19) ; chr15:g.89210794G>A (hg38)
• PubMed: PMID:10102298 ; PMID:10102299 ; PMID:11449319 ; PMID:12536144 ; PMID:15953459 ; PMID:19846785 ; PMID:20238024 ; PMID:22183382 ; PMID:25429852

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210794G>A , CM000677.2:g.89210794G>A	GRCh38
NC_000015.9:g.89754025G>A , CM000677.1:g.89754025G>A	GRCh37
NC_000015.8:g.87555029G>A	NCBI36
NG_008116.1:g.15898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.700C>T MANE Select	ENSP00000268125.5:p.Arg234Trp
ENST00000268125.9:c.700C>T	ENSP00000268125.5:p.Arg234Trp
ENST00000563254.1:c.102-30C>T
ENST00000567787.1:c.*278C>T	ENSP00000457251.1:n.*278C>T
NM_000326.4:c.700C>T	NP_000317.1:p.Arg234Trp
XM_011521870.1:c.700C>T	XP_011520172.1:p.Arg234Trp
XM_011521871.1:c.625C>T	XP_011520173.1:p.Arg209Trp
XM_011521872.1:c.625C>T	XP_011520174.1:p.Arg209Trp
XM_011521870.2:c.700C>T	XP_011520172.1:p.Arg234Trp
XM_017022460.1:c.727C>T	XP_016877949.1:p.Arg243Trp
NM_000326.5:c.700C>T MANE Select	NP_000317.1:p.Arg234Trp