Canonical Allele Identifier: CA1272529
Community Standard Title: NM_004736.4(XPR1):c.320T>G (p.Leu107Arg)
Gene: XPR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.180803484T>G , CM000663.2:g.180803484T>G GRCh38
NC_000001.10:g.180772620T>G , CM000663.1:g.180772620T>G GRCh37
NC_000001.9:g.179039243T>G NCBI36
NG_050964.1:g.176475T>G

Transcript Alleles

HGVS Amino-acid Change
NM_004736.4:c.320T>G MANE Select NP_004727.2:p.Leu107Arg
ENST00000367590.9:c.320T>G MANE Select ENSP00000356562.4:p.Leu107Arg
NM_001135669.1:c.320T>G NP_001129141.1:p.Leu107Arg
NM_001135669.2:c.320T>G NP_001129141.1:p.Leu107Arg
NM_001328662.1:c.320T>G NP_001315591.1:p.Leu107Arg
NM_001328662.2:c.320T>G NP_001315591.1:p.Leu107Arg
NM_004736.3:c.320T>G NP_004727.2:p.Leu107Arg
NR_137330.1:n.512T>G
NR_137330.2:n.500T>G
ENST00000367589.3:c.320T>G ENSP00000356561.3:p.Leu107Arg
ENST00000367590.8:c.320T>G ENSP00000356562.4:p.Leu107Arg