Canonical Allele Identifier: CA422226256

Gene: XPR1

Linked Data

• gnomAD v4: 1-180803530-T-A
• MyVariant Identifiers: chr1:g.180772666T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803530T>A , CM000663.2:g.180803530T>A	GRCh38
NC_000001.10:g.180772666T>A , CM000663.1:g.180772666T>A	GRCh37
NC_000001.9:g.179039289T>A	NCBI36
NG_050964.1:g.176521T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.366T>A MANE Select	ENSP00000356562.4:p.Arg122=
ENST00000367589.3:c.366T>A	ENSP00000356561.3:p.Arg122=
ENST00000367590.8:c.366T>A	ENSP00000356562.4:p.Arg122=
NM_001135669.1:c.366T>A	NP_001129141.1:p.Arg122=
NM_004736.3:c.366T>A	NP_004727.2:p.Arg122=
NM_001328662.1:c.366T>A	NP_001315591.1:p.Arg122=
NR_137330.1:n.558T>A
NM_001135669.2:c.366T>A	NP_001129141.1:p.Arg122=
NM_001328662.2:c.366T>A	NP_001315591.1:p.Arg122=
NM_004736.4:c.366T>A MANE Select	NP_004727.2:p.Arg122=
NR_137330.2:n.546T>A