Canonical Allele Identifier: CA343843193

Gene: XPR1

Linked Data

• MyVariant Identifiers: chr1:g.180772668T>C (hg19) ; chr1:g.180803532T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803532T>C , CM000663.2:g.180803532T>C	GRCh38
NC_000001.10:g.180772668T>C , CM000663.1:g.180772668T>C	GRCh37
NC_000001.9:g.179039291T>C	NCBI36
NG_050964.1:g.176523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.368T>C MANE Select	ENSP00000356562.4:p.Val123Ala
ENST00000367589.3:c.368T>C	ENSP00000356561.3:p.Val123Ala
ENST00000367590.8:c.368T>C	ENSP00000356562.4:p.Val123Ala
NM_001135669.1:c.368T>C	NP_001129141.1:p.Val123Ala
NM_004736.3:c.368T>C	NP_004727.2:p.Val123Ala
NM_001328662.1:c.368T>C	NP_001315591.1:p.Val123Ala
NR_137330.1:n.560T>C
NM_001135669.2:c.368T>C	NP_001129141.1:p.Val123Ala
NM_001328662.2:c.368T>C	NP_001315591.1:p.Val123Ala
NM_004736.4:c.368T>C MANE Select	NP_004727.2:p.Val123Ala
NR_137330.2:n.548T>C