Canonical Allele Identifier: CA1272519

Gene: XPR1

Linked Data

• dbSNP Id: rs757267503
• ExAC: 1:180772562 C / G
• gnomAD v2: 1-180772562-C-G
• gnomAD v4: 1-180803426-C-G
• MyVariant Identifiers: chr1:g.180772562C>G (hg19) ; chr1:g.180803426C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803426C>G , CM000663.2:g.180803426C>G	GRCh38
NC_000001.10:g.180772562C>G , CM000663.1:g.180772562C>G	GRCh37
NC_000001.9:g.179039185C>G	NCBI36
NG_050964.1:g.176417C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.262C>G MANE Select	ENSP00000356562.4:p.Gln88Glu
ENST00000367589.3:c.262C>G	ENSP00000356561.3:p.Gln88Glu
ENST00000367590.8:c.262C>G	ENSP00000356562.4:p.Gln88Glu
NM_001135669.1:c.262C>G	NP_001129141.1:p.Gln88Glu
NM_004736.3:c.262C>G	NP_004727.2:p.Gln88Glu
NM_001328662.1:c.262C>G	NP_001315591.1:p.Gln88Glu
NR_137330.1:n.454C>G
NM_001135669.2:c.262C>G	NP_001129141.1:p.Gln88Glu
NM_001328662.2:c.262C>G	NP_001315591.1:p.Gln88Glu
NM_004736.4:c.262C>G MANE Select	NP_004727.2:p.Gln88Glu
NR_137330.2:n.442C>G