Canonical Allele Identifier: CA343842914

Gene: XPR1

Linked Data

• gnomAD v4: 1-180803403-C-T
• MyVariant Identifiers: chr1:g.180772539C>T (hg19) ; chr1:g.180803403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803403C>T , CM000663.2:g.180803403C>T	GRCh38
NC_000001.10:g.180772539C>T , CM000663.1:g.180772539C>T	GRCh37
NC_000001.9:g.179039162C>T	NCBI36
NG_050964.1:g.176394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.239C>T MANE Select	ENSP00000356562.4:p.Ala80Val
ENST00000367589.3:c.239C>T	ENSP00000356561.3:p.Ala80Val
ENST00000367590.8:c.239C>T	ENSP00000356562.4:p.Ala80Val
NM_001135669.1:c.239C>T	NP_001129141.1:p.Ala80Val
NM_004736.3:c.239C>T	NP_004727.2:p.Ala80Val
NM_001328662.1:c.239C>T	NP_001315591.1:p.Ala80Val
NR_137330.1:n.431C>T
NM_001135669.2:c.239C>T	NP_001129141.1:p.Ala80Val
NM_001328662.2:c.239C>T	NP_001315591.1:p.Ala80Val
NM_004736.4:c.239C>T MANE Select	NP_004727.2:p.Ala80Val
NR_137330.2:n.419C>T