Canonical Allele Identifier: CA343843330

Gene: XPR1

Linked Data

• gnomAD v4: 1-180803591-A-G
• MyVariant Identifiers: chr1:g.180772727A>G (hg19) ; chr1:g.180803591A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803591A>G , CM000663.2:g.180803591A>G	GRCh38
NC_000001.10:g.180772727A>G , CM000663.1:g.180772727A>G	GRCh37
NC_000001.9:g.179039350A>G	NCBI36
NG_050964.1:g.176582A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.427A>G MANE Select	ENSP00000356562.4:p.Ile143Val
ENST00000367589.3:c.427A>G	ENSP00000356561.3:p.Ile143Val
ENST00000367590.8:c.427A>G	ENSP00000356562.4:p.Ile143Val
NM_001135669.1:c.427A>G	NP_001129141.1:p.Ile143Val
NM_004736.3:c.427A>G	NP_004727.2:p.Ile143Val
NM_001328662.1:c.427A>G	NP_001315591.1:p.Ile143Val
NR_137330.1:n.619A>G
NM_001135669.2:c.427A>G	NP_001129141.1:p.Ile143Val
NM_001328662.2:c.427A>G	NP_001315591.1:p.Ile143Val
NM_004736.4:c.427A>G MANE Select	NP_004727.2:p.Ile143Val
NR_137330.2:n.607A>G