Canonical Allele Identifier: CA200165
Gene: XPR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 192303
ClinVar RCV Id: RCV000172879
dbSNP Id: rs786205901

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.180803598T>C , CM000663.2:g.180803598T>C GRCh38
NC_000001.10:g.180772734T>C , CM000663.1:g.180772734T>C GRCh37
NC_000001.9:g.179039357T>C NCBI36
NG_050964.1:g.176589T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367590.9:c.434T>C MANE Select ENSP00000356562.4:p.Leu145Pro
ENST00000367589.3:c.434T>C ENSP00000356561.3:p.Leu145Pro
ENST00000367590.8:c.434T>C ENSP00000356562.4:p.Leu145Pro
NM_001135669.1:c.434T>C NP_001129141.1:p.Leu145Pro
NM_004736.3:c.434T>C NP_004727.2:p.Leu145Pro
NM_001328662.1:c.434T>C NP_001315591.1:p.Leu145Pro
NR_137330.1:n.626T>C
NM_001135669.2:c.434T>C NP_001129141.1:p.Leu145Pro
NM_001328662.2:c.434T>C NP_001315591.1:p.Leu145Pro
NM_004736.4:c.434T>C MANE Select NP_004727.2:p.Leu145Pro
NR_137330.2:n.614T>C