Canonical Allele Identifier: CA891927223

Gene: XPR1

Linked Data

• dbSNP Id: rs1179879836
• gnomAD v3: 1-180803659-A-T
• gnomAD v4: 1-180803659-A-T
• MyVariant Identifiers: chr1:g.180772795A>T (hg19) ; chr1:g.180803659A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803659A>T , CM000663.2:g.180803659A>T	GRCh38
NC_000001.10:g.180772795A>T , CM000663.1:g.180772795A>T	GRCh37
NC_000001.9:g.179039418A>T	NCBI36
NG_050964.1:g.176650A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.447+48A>T MANE Select	ENSP00000356562.4:n.447+48A>T
ENST00000367589.3:c.447+48A>T	ENSP00000356561.3:n.447+48A>T
ENST00000367590.8:c.447+48A>T	ENSP00000356562.4:n.447+48A>T
NM_001135669.1:c.447+48A>T	NP_001129141.1:n.447+48A>T
NM_004736.3:c.447+48A>T	NP_004727.2:n.447+48A>T
NM_001328662.1:c.447+48A>T	NP_001315591.1:n.447+48A>T
NR_137330.1:n.639+48A>T
NM_001135669.2:c.447+48A>T	NP_001129141.1:n.447+48A>T
NM_001328662.2:c.447+48A>T	NP_001315591.1:n.447+48A>T
NM_004736.4:c.447+48A>T MANE Select	NP_004727.2:n.447+48A>T
NR_137330.2:n.627+48A>T