Canonical Allele Identifier: CA343843346

Gene: XPR1

Linked Data

• gnomAD v4: 1-180803600-C-A
• MyVariant Identifiers: chr1:g.180772736C>A (hg19) ; chr1:g.180803600C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803600C>A , CM000663.2:g.180803600C>A	GRCh38
NC_000001.10:g.180772736C>A , CM000663.1:g.180772736C>A	GRCh37
NC_000001.9:g.179039359C>A	NCBI36
NG_050964.1:g.176591C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.436C>A MANE Select	ENSP00000356562.4:p.Gln146Lys
ENST00000367589.3:c.436C>A	ENSP00000356561.3:p.Gln146Lys
ENST00000367590.8:c.436C>A	ENSP00000356562.4:p.Gln146Lys
NM_001135669.1:c.436C>A	NP_001129141.1:p.Gln146Lys
NM_004736.3:c.436C>A	NP_004727.2:p.Gln146Lys
NM_001328662.1:c.436C>A	NP_001315591.1:p.Gln146Lys
NR_137330.1:n.628C>A
NM_001135669.2:c.436C>A	NP_001129141.1:p.Gln146Lys
NM_001328662.2:c.436C>A	NP_001315591.1:p.Gln146Lys
NM_004736.4:c.436C>A MANE Select	NP_004727.2:p.Gln146Lys
NR_137330.2:n.616C>A