Canonical Allele Identifier: CA422226173

Gene: XPR1

Linked Data

• dbSNP Id: rs139002331
• gnomAD v2: 1-180772546-C-T
• gnomAD v4: 1-180803410-C-T
• MyVariant Identifiers: chr1:g.180772546C>T (hg19) ; chr1:g.180803410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803410C>T , CM000663.2:g.180803410C>T	GRCh38
NC_000001.10:g.180772546C>T , CM000663.1:g.180772546C>T	GRCh37
NC_000001.9:g.179039169C>T	NCBI36
NG_050964.1:g.176401C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.246C>T MANE Select	ENSP00000356562.4:p.Arg82=
ENST00000367589.3:c.246C>T	ENSP00000356561.3:p.Arg82=
ENST00000367590.8:c.246C>T	ENSP00000356562.4:p.Arg82=
NM_001135669.1:c.246C>T	NP_001129141.1:p.Arg82=
NM_004736.3:c.246C>T	NP_004727.2:p.Arg82=
NM_001328662.1:c.246C>T	NP_001315591.1:p.Arg82=
NR_137330.1:n.438C>T
NM_001135669.2:c.246C>T	NP_001129141.1:p.Arg82=
NM_001328662.2:c.246C>T	NP_001315591.1:p.Arg82=
NM_004736.4:c.246C>T MANE Select	NP_004727.2:p.Arg82=
NR_137330.2:n.426C>T