Canonical Allele Identifier: CA34130963

Gene: XPR1

Linked Data

• dbSNP Id: rs1028417375
• gnomAD v4: 1-180803326-T-G
• MyVariant Identifiers: chr1:g.180772462T>G (hg19) ; chr1:g.180803326T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803326T>G , CM000663.2:g.180803326T>G	GRCh38
NC_000001.10:g.180772462T>G , CM000663.1:g.180772462T>G	GRCh37
NC_000001.9:g.179039085T>G	NCBI36
NG_050964.1:g.176317T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.224-62T>G MANE Select	ENSP00000356562.4:n.224-62T>G
ENST00000367589.3:c.224-62T>G	ENSP00000356561.3:n.224-62T>G
ENST00000367590.8:c.224-62T>G	ENSP00000356562.4:n.224-62T>G
NM_001135669.1:c.224-62T>G	NP_001129141.1:n.224-62T>G
NM_004736.3:c.224-62T>G	NP_004727.2:n.224-62T>G
NM_001328662.1:c.224-62T>G	NP_001315591.1:n.224-62T>G
NR_137330.1:n.416-62T>G
NM_001135669.2:c.224-62T>G	NP_001129141.1:n.224-62T>G
NM_001328662.2:c.224-62T>G	NP_001315591.1:n.224-62T>G
NM_004736.4:c.224-62T>G MANE Select	NP_004727.2:n.224-62T>G
NR_137330.2:n.404-62T>G