Canonical Allele Identifier: CA1272507

Gene: XPR1

Linked Data

• dbSNP Id: rs761341469
• ExAC: 1:180772503 G / A
• gnomAD v2: 1-180772503-G-A
• gnomAD v3: 1-180803367-G-A
• gnomAD v4: 1-180803367-G-A
• MyVariant Identifiers: chr1:g.180772503G>A (hg19) ; chr1:g.180803367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803367G>A , CM000663.2:g.180803367G>A	GRCh38
NC_000001.10:g.180772503G>A , CM000663.1:g.180772503G>A	GRCh37
NC_000001.9:g.179039126G>A	NCBI36
NG_050964.1:g.176358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.224-21G>A MANE Select	ENSP00000356562.4:n.224-21G>A
ENST00000367589.3:c.224-21G>A	ENSP00000356561.3:n.224-21G>A
ENST00000367590.8:c.224-21G>A	ENSP00000356562.4:n.224-21G>A
NM_001135669.1:c.224-21G>A	NP_001129141.1:n.224-21G>A
NM_004736.3:c.224-21G>A	NP_004727.2:n.224-21G>A
NM_001328662.1:c.224-21G>A	NP_001315591.1:n.224-21G>A
NR_137330.1:n.416-21G>A
NM_001135669.2:c.224-21G>A	NP_001129141.1:n.224-21G>A
NM_001328662.2:c.224-21G>A	NP_001315591.1:n.224-21G>A
NM_004736.4:c.224-21G>A MANE Select	NP_004727.2:n.224-21G>A
NR_137330.2:n.404-21G>A