Canonical Allele Identifier: CA343843326

Gene: XPR1

Linked Data

• dbSNP Id: rs1649875132
• gnomAD v4: 1-180803588-C-G
• MyVariant Identifiers: chr1:g.180772724C>G (hg19) ; chr1:g.180803588C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803588C>G , CM000663.2:g.180803588C>G	GRCh38
NC_000001.10:g.180772724C>G , CM000663.1:g.180772724C>G	GRCh37
NC_000001.9:g.179039347C>G	NCBI36
NG_050964.1:g.176579C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.424C>G MANE Select	ENSP00000356562.4:p.Leu142Val
ENST00000367589.3:c.424C>G	ENSP00000356561.3:p.Leu142Val
ENST00000367590.8:c.424C>G	ENSP00000356562.4:p.Leu142Val
NM_001135669.1:c.424C>G	NP_001129141.1:p.Leu142Val
NM_004736.3:c.424C>G	NP_004727.2:p.Leu142Val
NM_001328662.1:c.424C>G	NP_001315591.1:p.Leu142Val
NR_137330.1:n.616C>G
NM_001135669.2:c.424C>G	NP_001129141.1:p.Leu142Val
NM_001328662.2:c.424C>G	NP_001315591.1:p.Leu142Val
NM_004736.4:c.424C>G MANE Select	NP_004727.2:p.Leu142Val
NR_137330.2:n.604C>G