Canonical Allele Identifier: CA343842988
Gene: XPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2967846
ClinVar RCV Id: RCV003826508
dbSNP Id: rs1358497638
gnomAD v2: 1-180772572-T-C
gnomAD v3: 1-180803436-T-C
gnomAD v4: 1-180803436-T-C
MyVariant Identifiers: chr1:g.180772572T>C (hg19) chr1:g.180803436T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.180803436T>C , CM000663.2:g.180803436T>C GRCh38
NC_000001.10:g.180772572T>C , CM000663.1:g.180772572T>C GRCh37
NC_000001.9:g.179039195T>C NCBI36
NG_050964.1:g.176427T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367590.9:c.272T>C MANE Select ENSP00000356562.4:p.Leu91Pro
ENST00000367589.3:c.272T>C ENSP00000356561.3:p.Leu91Pro
ENST00000367590.8:c.272T>C ENSP00000356562.4:p.Leu91Pro
NM_001135669.1:c.272T>C NP_001129141.1:p.Leu91Pro
NM_004736.3:c.272T>C NP_004727.2:p.Leu91Pro
NM_001328662.1:c.272T>C NP_001315591.1:p.Leu91Pro
NR_137330.1:n.464T>C
NM_001135669.2:c.272T>C NP_001129141.1:p.Leu91Pro
NM_001328662.2:c.272T>C NP_001315591.1:p.Leu91Pro
NM_004736.4:c.272T>C MANE Select NP_004727.2:p.Leu91Pro
NR_137330.2:n.452T>C
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