Canonical Allele Identifier: CA7722190

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317236
• ClinVar RCV Id: RCV000284563 ; RCV000346536 ; RCV000394745 ; RCV001000612 ; RCV001509871
• dbSNP Id: rs181863443
• ExAC: 15:89753915 G / A
• gnomAD v2: 15-89753915-G-A
• gnomAD v3: 15-89210684-G-A
• gnomAD v4: 15-89210684-G-A
• MyVariant Identifiers: chr15:g.89753915G>A (hg19) ; chr15:g.89210684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210684G>A , CM000677.2:g.89210684G>A	GRCh38
NC_000015.9:g.89753915G>A , CM000677.1:g.89753915G>A	GRCh37
NC_000015.8:g.87554919G>A	NCBI36
NG_008116.1:g.16008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.795+15C>T MANE Select	ENSP00000268125.5:n.795+15C>T
ENST00000268125.9:c.795+15C>T	ENSP00000268125.5:n.795+15C>T
ENST00000563254.1:c.167+15C>T
NM_000326.4:c.795+15C>T	NP_000317.1:n.795+15C>T
XM_011521870.1:c.795+15C>T	XP_011520172.1:n.795+15C>T
XM_011521871.1:c.720+15C>T	XP_011520173.1:n.720+15C>T
XM_011521872.1:c.720+15C>T	XP_011520174.1:n.720+15C>T
XM_011521870.2:c.795+15C>T	XP_011520172.1:n.795+15C>T
XM_017022460.1:c.822+15C>T	XP_016877949.1:n.822+15C>T
NM_000326.5:c.795+15C>T MANE Select	NP_000317.1:n.795+15C>T