Canonical Allele Identifier: CA7722155

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317232
• ClinVar RCV Id: RCV000369084 ; RCV001203836 ; RCV003888735
• dbSNP Id: rs201588178
• ExAC: 15:89753595 G / A
• gnomAD v2: 15-89753595-G-A
• gnomAD v3: 15-89210364-G-A
• gnomAD v4: 15-89210364-G-A
• COSMIC: COSM241429
• MyVariant Identifiers: chr15:g.89753595G>A (hg19) ; chr15:g.89210364G>A (hg38)
• PubMed: PMID:22164218

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210364G>A , CM000677.2:g.89210364G>A	GRCh38
NC_000015.9:g.89753595G>A , CM000677.1:g.89753595G>A	GRCh37
NC_000015.8:g.87554599G>A	NCBI36
NG_008116.1:g.16328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.875C>T MANE Select	ENSP00000268125.5:p.Thr292Met
ENST00000268125.9:c.875C>T	ENSP00000268125.5:p.Thr292Met
ENST00000563254.1:c.247C>T
NM_000326.4:c.875C>T	NP_000317.1:p.Thr292Met
XM_011521870.1:c.875C>T	XP_011520172.1:p.Thr292Met
XM_011521871.1:c.800C>T	XP_011520173.1:p.Thr267Met
XM_011521872.1:c.800C>T	XP_011520174.1:p.Thr267Met
XM_011521870.2:c.875C>T	XP_011520172.1:p.Thr292Met
XM_017022460.1:c.902C>T	XP_016877949.1:p.Thr301Met
NM_000326.5:c.875C>T MANE Select	NP_000317.1:p.Thr292Met