Canonical Allele Identifier: CA7722235

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 2800164
• ClinVar RCV Id: RCV003671360
• dbSNP Id: rs763808467
• ExAC: 15:89755049 G / A
• gnomAD v2: 15-89755049-G-A
• gnomAD v4: 15-89211818-G-A
• MyVariant Identifiers: chr15:g.89755049G>A (hg19) ; chr15:g.89211818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211818G>A , CM000677.2:g.89211818G>A	GRCh38
NC_000015.9:g.89755049G>A , CM000677.1:g.89755049G>A	GRCh37
NC_000015.8:g.87556053G>A	NCBI36
NG_008116.1:g.14874C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.609C>T MANE Select	ENSP00000268125.5:p.Asn203=
ENST00000268125.9:c.609C>T	ENSP00000268125.5:p.Asn203=
ENST00000563254.1:c.26C>T
ENST00000567787.1:c.*187C>T	ENSP00000457251.1:n.*187C>T
NM_000326.4:c.609C>T	NP_000317.1:p.Asn203=
XM_011521870.1:c.609C>T	XP_011520172.1:p.Asn203=
XM_011521871.1:c.534C>T	XP_011520173.1:p.Asn178=
XM_011521872.1:c.534C>T	XP_011520174.1:p.Asn178=
XM_011521870.2:c.609C>T	XP_011520172.1:p.Asn203=
XM_017022460.1:c.636C>T	XP_016877949.1:p.Asn212=
NM_000326.5:c.609C>T MANE Select	NP_000317.1:p.Asn203=