Canonical Allele Identifier: CA393729139

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 1038664
• ClinVar RCV Id: RCV001342003
• dbSNP Id: rs1237226502
• MyVariant Identifiers: chr15:g.89755053T>C (hg19) ; chr15:g.89211822T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211822T>C , CM000677.2:g.89211822T>C	GRCh38
NC_000015.9:g.89755053T>C , CM000677.1:g.89755053T>C	GRCh37
NC_000015.8:g.87556057T>C	NCBI36
NG_008116.1:g.14870A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.605A>G MANE Select	ENSP00000268125.5:p.Glu202Gly
ENST00000268125.9:c.605A>G	ENSP00000268125.5:p.Glu202Gly
ENST00000563254.1:c.22A>G
ENST00000567787.1:c.*183A>G	ENSP00000457251.1:n.*183A>G
NM_000326.4:c.605A>G	NP_000317.1:p.Glu202Gly
XM_011521870.1:c.605A>G	XP_011520172.1:p.Glu202Gly
XM_011521871.1:c.530A>G	XP_011520173.1:p.Glu177Gly
XM_011521872.1:c.530A>G	XP_011520174.1:p.Glu177Gly
XM_011521870.2:c.605A>G	XP_011520172.1:p.Glu202Gly
XM_017022460.1:c.632A>G	XP_016877949.1:p.Glu211Gly
NM_000326.5:c.605A>G MANE Select	NP_000317.1:p.Glu202Gly