Canonical Allele Identifier: CA7722362

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317242
• ClinVar RCV Id: RCV000265453 ; RCV000305613 ; RCV000358016 ; RCV000905009 ; RCV003888737
• dbSNP Id: rs201865787
• ExAC: 15:89760506 C / T
• gnomAD v2: 15-89760506-C-T
• gnomAD v3: 15-89217275-C-T
• gnomAD v4: 15-89217275-C-T
• MyVariant Identifiers: chr15:g.89760506C>T (hg19) ; chr15:g.89217275C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89217275C>T , CM000677.2:g.89217275C>T	GRCh38
NC_000015.9:g.89760506C>T , CM000677.1:g.89760506C>T	GRCh37
NC_000015.8:g.87561510C>T	NCBI36
NG_008116.1:g.9417G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.191G>A MANE Select	ENSP00000268125.5:p.Arg64Gln
ENST00000268125.9:c.191G>A	ENSP00000268125.5:p.Arg64Gln
ENST00000567787.1:c.183+8G>A	ENSP00000457251.1:n.183+8G>A
NM_000326.4:c.191G>A	NP_000317.1:p.Arg64Gln
XM_011521870.1:c.191G>A	XP_011520172.1:p.Arg64Gln
XM_011521871.1:c.116G>A	XP_011520173.1:p.Arg39Gln
XM_011521872.1:c.116G>A	XP_011520174.1:p.Arg39Gln
XM_011521870.2:c.191G>A	XP_011520172.1:p.Arg64Gln
XM_017022460.1:c.218G>A	XP_016877949.1:p.Arg73Gln
NM_000326.5:c.191G>A MANE Select	NP_000317.1:p.Arg64Gln