Canonical Allele Identifier: CA422226176
Gene: XPR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.180772552T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.180803416T>C , CM000663.2:g.180803416T>C GRCh38
NC_000001.10:g.180772552T>C , CM000663.1:g.180772552T>C GRCh37
NC_000001.9:g.179039175T>C NCBI36
NG_050964.1:g.176407T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367590.9:c.252T>C MANE Select ENSP00000356562.4:p.Phe84=
ENST00000367589.3:c.252T>C ENSP00000356561.3:p.Phe84=
ENST00000367590.8:c.252T>C ENSP00000356562.4:p.Phe84=
NM_001135669.1:c.252T>C NP_001129141.1:p.Phe84=
NM_004736.3:c.252T>C NP_004727.2:p.Phe84=
NM_001328662.1:c.252T>C NP_001315591.1:p.Phe84=
NR_137330.1:n.444T>C
NM_001135669.2:c.252T>C NP_001129141.1:p.Phe84=
NM_001328662.2:c.252T>C NP_001315591.1:p.Phe84=
NM_004736.4:c.252T>C MANE Select NP_004727.2:p.Phe84=
NR_137330.2:n.432T>C