Canonical Allele Identifier: CA343843085

Gene: XPR1

Linked Data

• MyVariant Identifiers: chr1:g.180772620T>A (hg19) ; chr1:g.180803484T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803484T>A , CM000663.2:g.180803484T>A	GRCh38
NC_000001.10:g.180772620T>A , CM000663.1:g.180772620T>A	GRCh37
NC_000001.9:g.179039243T>A	NCBI36
NG_050964.1:g.176475T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.320T>A MANE Select	ENSP00000356562.4:p.Leu107Gln
ENST00000367589.3:c.320T>A	ENSP00000356561.3:p.Leu107Gln
ENST00000367590.8:c.320T>A	ENSP00000356562.4:p.Leu107Gln
NM_001135669.1:c.320T>A	NP_001129141.1:p.Leu107Gln
NM_004736.3:c.320T>A	NP_004727.2:p.Leu107Gln
NM_001328662.1:c.320T>A	NP_001315591.1:p.Leu107Gln
NR_137330.1:n.512T>A
NM_001135669.2:c.320T>A	NP_001129141.1:p.Leu107Gln
NM_001328662.2:c.320T>A	NP_001315591.1:p.Leu107Gln
NM_004736.4:c.320T>A MANE Select	NP_004727.2:p.Leu107Gln
NR_137330.2:n.500T>A