Canonical Allele Identifier: CA7722170

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317234
• ClinVar RCV Id: RCV000261796 ; RCV000316533 ; RCV000373444 ; RCV000904552 ; RCV004537790
• dbSNP Id: rs201866933
• ExAC: 15:89753680 G / A
• gnomAD v2: 15-89753680-G-A
• gnomAD v3: 15-89210449-G-A
• gnomAD v4: 15-89210449-G-A
• MyVariant Identifiers: chr15:g.89753680G>A (hg19) ; chr15:g.89210449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210449G>A , CM000677.2:g.89210449G>A	GRCh38
NC_000015.9:g.89753680G>A , CM000677.1:g.89753680G>A	GRCh37
NC_000015.8:g.87554684G>A	NCBI36
NG_008116.1:g.16243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.796-6C>T MANE Select	ENSP00000268125.5:n.796-6C>T
ENST00000268125.9:c.796-6C>T	ENSP00000268125.5:n.796-6C>T
ENST00000563254.1:c.168-6C>T
NM_000326.4:c.796-6C>T	NP_000317.1:n.796-6C>T
XM_011521870.1:c.796-6C>T	XP_011520172.1:n.796-6C>T
XM_011521871.1:c.721-6C>T	XP_011520173.1:n.721-6C>T
XM_011521872.1:c.721-6C>T	XP_011520174.1:n.721-6C>T
XM_011521870.2:c.796-6C>T	XP_011520172.1:n.796-6C>T
XM_017022460.1:c.823-6C>T	XP_016877949.1:n.823-6C>T
NM_000326.5:c.796-6C>T MANE Select	NP_000317.1:n.796-6C>T