Canonical Allele Identifier: CA343843568
Community Standard Title: NM_004736.4(XPR1):c.526C>T (p.Arg176Ter)
Gene: XPR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.180806140C>T , CM000663.2:g.180806140C>T GRCh38
NC_000001.10:g.180775276C>T , CM000663.1:g.180775276C>T GRCh37
NC_000001.9:g.179041899C>T NCBI36
NG_050964.1:g.179131C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004736.4:c.526C>T MANE Select NP_004727.2:p.Arg176Ter
ENST00000367590.9:c.526C>T MANE Select ENSP00000356562.4:p.Arg176Ter
NM_001135669.1:c.526C>T NP_001129141.1:p.Arg176Ter
NM_001135669.2:c.526C>T NP_001129141.1:p.Arg176Ter
NM_001328662.1:c.526C>T NP_001315591.1:p.Arg176Ter
NM_001328662.2:c.526C>T NP_001315591.1:p.Arg176Ter
NM_004736.3:c.526C>T NP_004727.2:p.Arg176Ter
NR_137330.1:n.718C>T
NR_137330.2:n.706C>T
ENST00000367589.3:c.526C>T ENSP00000356561.3:p.Arg176Ter
ENST00000367590.8:c.526C>T ENSP00000356562.4:p.Arg176Ter