Canonical Allele Identifier: CA368173112

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1513372
• ClinVar RCV Id: RCV002018381
• dbSNP Id: rs2116132179
• MyVariant Identifiers: chr7:g.92129022A>T (hg19) ; chr7:g.92499708A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499708A>T , CM000669.2:g.92499708A>T	GRCh38
NC_000007.13:g.92129022A>T , CM000669.1:g.92129022A>T	GRCh37
NC_000007.12:g.91966958A>T	NCBI36
NG_008341.1:g.33824T>A
NG_008341.2:g.33824T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2714T>A MANE Select	ENSP00000248633.4:p.Val905Asp
ENST00000248633.8:c.2714T>A	ENSP00000248633.4:p.Val905Asp
ENST00000428214.5:c.2543T>A	ENSP00000394413.1:p.Val848Asp
ENST00000438045.5:c.1748T>A	ENSP00000410438.1:p.Val583Asp
ENST00000484913.5:n.2753T>A
ENST00000496420.5:n.2606T>A
NM_000466.2:c.2714T>A	NP_000457.1:p.Val905Asp
NM_001282677.1:c.2543T>A	NP_001269606.1:p.Val848Asp
NM_001282678.1:c.2090T>A	NP_001269607.1:p.Val697Asp
XM_005250433.3:c.965T>A	XP_005250490.1:p.Val322Asp
XR_242246.3:n.2810T>A
XM_017012319.2:c.965T>A	XP_016867808.1:p.Val322Asp
XR_001744808.2:n.1741T>A
XR_242246.5:n.2761T>A
NM_000466.3:c.2714T>A MANE Select	NP_000457.1:p.Val905Asp
NM_001282677.2:c.2543T>A	NP_001269606.1:p.Val848Asp
NM_001282678.2:c.2090T>A	NP_001269607.1:p.Val697Asp