Canonical Allele Identifier: CA343842933

Gene: XPR1

Linked Data

• dbSNP Id: rs1465739013
• gnomAD v3: 1-180803412-G-A
• gnomAD v4: 1-180803412-G-A
• MyVariant Identifiers: chr1:g.180772548G>A (hg19) ; chr1:g.180803412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803412G>A , CM000663.2:g.180803412G>A	GRCh38
NC_000001.10:g.180772548G>A , CM000663.1:g.180772548G>A	GRCh37
NC_000001.9:g.179039171G>A	NCBI36
NG_050964.1:g.176403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.248G>A MANE Select	ENSP00000356562.4:p.Arg83Lys
ENST00000367589.3:c.248G>A	ENSP00000356561.3:p.Arg83Lys
ENST00000367590.8:c.248G>A	ENSP00000356562.4:p.Arg83Lys
NM_001135669.1:c.248G>A	NP_001129141.1:p.Arg83Lys
NM_004736.3:c.248G>A	NP_004727.2:p.Arg83Lys
NM_001328662.1:c.248G>A	NP_001315591.1:p.Arg83Lys
NR_137330.1:n.440G>A
NM_001135669.2:c.248G>A	NP_001129141.1:p.Arg83Lys
NM_001328662.2:c.248G>A	NP_001315591.1:p.Arg83Lys
NM_004736.4:c.248G>A MANE Select	NP_004727.2:p.Arg83Lys
NR_137330.2:n.428G>A