Canonical Allele Identifier: CA1272535
Gene: XPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1287169
ClinVar RCV Id: RCV001708794
dbSNP Id: rs12078050
ExAC: 1:180772708 T / C
gnomAD v2: 1-180772708-T-C
gnomAD v3: 1-180803572-T-C
gnomAD v4: 1-180803572-T-C
MyVariant Identifiers: chr1:g.180772708T>C (hg19) chr1:g.180803572T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.180803572T>C , CM000663.2:g.180803572T>C GRCh38
NC_000001.10:g.180772708T>C , CM000663.1:g.180772708T>C GRCh37
NC_000001.9:g.179039331T>C NCBI36
NG_050964.1:g.176563T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367590.9:c.408T>C MANE Select ENSP00000356562.4:p.Ser136=
ENST00000367589.3:c.408T>C ENSP00000356561.3:p.Ser136=
ENST00000367590.8:c.408T>C ENSP00000356562.4:p.Ser136=
NM_001135669.1:c.408T>C NP_001129141.1:p.Ser136=
NM_004736.3:c.408T>C NP_004727.2:p.Ser136=
NM_001328662.1:c.408T>C NP_001315591.1:p.Ser136=
NR_137330.1:n.600T>C
NM_001135669.2:c.408T>C NP_001129141.1:p.Ser136=
NM_001328662.2:c.408T>C NP_001315591.1:p.Ser136=
NM_004736.4:c.408T>C MANE Select NP_004727.2:p.Ser136=
NR_137330.2:n.588T>C
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