Canonical Allele Identifier: CA7722171

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317235
• ClinVar RCV Id: RCV000286075 ; RCV000324799 ; RCV000377048 ; RCV000965306
• dbSNP Id: rs74029958
• ExAC: 15:89753681 G / C
• gnomAD v2: 15-89753681-G-C
• gnomAD v3: 15-89210450-G-C
• gnomAD v4: 15-89210450-G-C
• MyVariant Identifiers: chr15:g.89753681G>C (hg19) ; chr15:g.89210450G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210450G>C , CM000677.2:g.89210450G>C	GRCh38
NC_000015.9:g.89753681G>C , CM000677.1:g.89753681G>C	GRCh37
NC_000015.8:g.87554685G>C	NCBI36
NG_008116.1:g.16242C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.796-7C>G MANE Select	ENSP00000268125.5:n.796-7C>G
ENST00000268125.9:c.796-7C>G	ENSP00000268125.5:n.796-7C>G
ENST00000563254.1:c.168-7C>G
NM_000326.4:c.796-7C>G	NP_000317.1:n.796-7C>G
XM_011521870.1:c.796-7C>G	XP_011520172.1:n.796-7C>G
XM_011521871.1:c.721-7C>G	XP_011520173.1:n.721-7C>G
XM_011521872.1:c.721-7C>G	XP_011520174.1:n.721-7C>G
XM_011521870.2:c.796-7C>G	XP_011520172.1:n.796-7C>G
XM_017022460.1:c.823-7C>G	XP_016877949.1:n.823-7C>G
NM_000326.5:c.796-7C>G MANE Select	NP_000317.1:n.796-7C>G