Canonical Allele Identifier: CA34130972
Gene: XPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1926266
ClinVar RCV Id: RCV002605117
dbSNP Id: rs150752401
gnomAD v2: 1-180772618-G-A
gnomAD v3: 1-180803482-G-A
gnomAD v4: 1-180803482-G-A
MyVariant Identifiers: chr1:g.180772618G>A (hg19) chr1:g.180803482G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.180803482G>A , CM000663.2:g.180803482G>A GRCh38
NC_000001.10:g.180772618G>A , CM000663.1:g.180772618G>A GRCh37
NC_000001.9:g.179039241G>A NCBI36
NG_050964.1:g.176473G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367590.9:c.318G>A MANE Select ENSP00000356562.4:p.Thr106=
ENST00000367589.3:c.318G>A ENSP00000356561.3:p.Thr106=
ENST00000367590.8:c.318G>A ENSP00000356562.4:p.Thr106=
NM_001135669.1:c.318G>A NP_001129141.1:p.Thr106=
NM_004736.3:c.318G>A NP_004727.2:p.Thr106=
NM_001328662.1:c.318G>A NP_001315591.1:p.Thr106=
NR_137330.1:n.510G>A
NM_001135669.2:c.318G>A NP_001129141.1:p.Thr106=
NM_001328662.2:c.318G>A NP_001315591.1:p.Thr106=
NM_004736.4:c.318G>A MANE Select NP_004727.2:p.Thr106=
NR_137330.2:n.498G>A
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