Canonical Allele Identifier: CA7722406

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 498474
• ClinVar RCV Id: RCV000596579 ; RCV002250668 ; RCV002282255
• dbSNP Id: rs775252439
• ExAC: 15:89761912 G / A
• gnomAD v2: 15-89761912-G-A
• gnomAD v3: 15-89218681-G-A
• gnomAD v4: 15-89218681-G-A
• MyVariant Identifiers: chr15:g.89761912G>A (hg19) ; chr15:g.89218681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89218681G>A , CM000677.2:g.89218681G>A	GRCh38
NC_000015.9:g.89761912G>A , CM000677.1:g.89761912G>A	GRCh37
NC_000015.8:g.87562916G>A	NCBI36
NG_008116.1:g.8011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.25C>T MANE Select	ENSP00000268125.5:p.Arg9Cys
ENST00000268125.9:c.25C>T	ENSP00000268125.5:p.Arg9Cys
ENST00000567787.1:c.25C>T	ENSP00000457251.1:p.Arg9Cys
NM_000326.4:c.25C>T	NP_000317.1:p.Arg9Cys
XM_011521870.1:c.25C>T	XP_011520172.1:p.Arg9Cys
XM_011521870.2:c.25C>T	XP_011520172.1:p.Arg9Cys
XM_017022460.1:c.52C>T	XP_016877949.1:p.Arg18Cys
NM_000326.5:c.25C>T MANE Select	NP_000317.1:p.Arg9Cys