Canonical Allele Identifier: CA274532671

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 2002957
• ClinVar RCV Id: RCV002824977
• dbSNP Id: rs991922765
• gnomAD v4: 15-89211871-T-C
• MyVariant Identifiers: chr15:g.89755102T>C (hg19) ; chr15:g.89211871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211871T>C , CM000677.2:g.89211871T>C	GRCh38
NC_000015.9:g.89755102T>C , CM000677.1:g.89755102T>C	GRCh37
NC_000015.8:g.87556106T>C	NCBI36
NG_008116.1:g.14821A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.556A>G MANE Select	ENSP00000268125.5:p.Lys186Glu
ENST00000268125.9:c.556A>G	ENSP00000268125.5:p.Lys186Glu
ENST00000567787.1:c.*134A>G	ENSP00000457251.1:n.*134A>G
NM_000326.4:c.556A>G	NP_000317.1:p.Lys186Glu
XM_011521870.1:c.556A>G	XP_011520172.1:p.Lys186Glu
XM_011521871.1:c.481A>G	XP_011520173.1:p.Lys161Glu
XM_011521872.1:c.481A>G	XP_011520174.1:p.Lys161Glu
XM_011521870.2:c.556A>G	XP_011520172.1:p.Lys186Glu
XM_017022460.1:c.583A>G	XP_016877949.1:p.Lys195Glu
NM_000326.5:c.556A>G MANE Select	NP_000317.1:p.Lys186Glu