Canonical Allele Identifier: CA343842946

Gene: XPR1

Linked Data

• dbSNP Id: rs1463658526
• gnomAD v2: 1-180772553-G-T
• MyVariant Identifiers: chr1:g.180772553G>T (hg19) ; chr1:g.180803417G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180803417G>T , CM000663.2:g.180803417G>T	GRCh38
NC_000001.10:g.180772553G>T , CM000663.1:g.180772553G>T	GRCh37
NC_000001.9:g.179039176G>T	NCBI36
NG_050964.1:g.176408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367590.9:c.253G>T MANE Select	ENSP00000356562.4:p.Ala85Ser
ENST00000367589.3:c.253G>T	ENSP00000356561.3:p.Ala85Ser
ENST00000367590.8:c.253G>T	ENSP00000356562.4:p.Ala85Ser
NM_001135669.1:c.253G>T	NP_001129141.1:p.Ala85Ser
NM_004736.3:c.253G>T	NP_004727.2:p.Ala85Ser
NM_001328662.1:c.253G>T	NP_001315591.1:p.Ala85Ser
NR_137330.1:n.445G>T
NM_001135669.2:c.253G>T	NP_001129141.1:p.Ala85Ser
NM_001328662.2:c.253G>T	NP_001315591.1:p.Ala85Ser
NM_004736.4:c.253G>T MANE Select	NP_004727.2:p.Ala85Ser
NR_137330.2:n.433G>T