Canonical Allele Identifier: CA343843253

Gene: XPR1

Linked Data

• gnomAD v4: 1-180803556-T-C
• MyVariant Identifiers: chr1:g.180772692T>C (hg19) ; chr1:g.180803556T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803556T>C , CM000663.2:g.180803556T>C	GRCh38
NC_000001.10:g.180772692T>C , CM000663.1:g.180772692T>C	GRCh37
NC_000001.9:g.179039315T>C	NCBI36
NG_050964.1:g.176547T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.392T>C MANE Select	ENSP00000356562.4:p.Leu131Pro
ENST00000367589.3:c.392T>C	ENSP00000356561.3:p.Leu131Pro
ENST00000367590.8:c.392T>C	ENSP00000356562.4:p.Leu131Pro
NM_001135669.1:c.392T>C	NP_001129141.1:p.Leu131Pro
NM_004736.3:c.392T>C	NP_004727.2:p.Leu131Pro
NM_001328662.1:c.392T>C	NP_001315591.1:p.Leu131Pro
NR_137330.1:n.584T>C
NM_001135669.2:c.392T>C	NP_001129141.1:p.Leu131Pro
NM_001328662.2:c.392T>C	NP_001315591.1:p.Leu131Pro
NM_004736.4:c.392T>C MANE Select	NP_004727.2:p.Leu131Pro
NR_137330.2:n.572T>C