Canonical Allele Identifier: CA202707

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 197133
• ClinVar RCV Id: RCV000178076 ; RCV000280535 ; RCV000329645 ; RCV000386660 ; RCV000896034
• dbSNP Id: rs77384282
• ExAC: 15:89761908 A / T
• gnomAD v2: 15-89761908-A-T
• gnomAD v3: 15-89218677-A-T
• gnomAD v4: 15-89218677-A-T
• MyVariant Identifiers: chr15:g.89761908A>T (hg19) ; chr15:g.89218677A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89218677A>T , CM000677.2:g.89218677A>T	GRCh38
NC_000015.9:g.89761908A>T , CM000677.1:g.89761908A>T	GRCh37
NC_000015.8:g.87562912A>T	NCBI36
NG_008116.1:g.8015T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.29T>A MANE Select	ENSP00000268125.5:p.Met10Lys
ENST00000268125.9:c.29T>A	ENSP00000268125.5:p.Met10Lys
ENST00000567787.1:c.29T>A	ENSP00000457251.1:p.Met10Lys
NM_000326.4:c.29T>A	NP_000317.1:p.Met10Lys
XM_011521870.1:c.29T>A	XP_011520172.1:p.Met10Lys
XM_011521870.2:c.29T>A	XP_011520172.1:p.Met10Lys
XM_017022460.1:c.56T>A	XP_016877949.1:p.Met19Lys
NM_000326.5:c.29T>A MANE Select	NP_000317.1:p.Met10Lys