Canonical Allele Identifier: CA368178336

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502026-A-T
• MyVariant Identifiers: chr7:g.92131340A>T (hg19) ; chr7:g.92502026A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502026A>T , CM000669.2:g.92502026A>T	GRCh38
NC_000007.13:g.92131340A>T , CM000669.1:g.92131340A>T	GRCh37
NC_000007.12:g.91969276A>T	NCBI36
NG_008341.1:g.31506T>A
NG_008341.2:g.31506T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2280T>A MANE Select	ENSP00000248633.4:p.Asp760Glu
ENST00000248633.8:c.2280T>A	ENSP00000248633.4:p.Asp760Glu
ENST00000428214.5:c.2109T>A	ENSP00000394413.1:p.Asp703Glu
ENST00000438045.5:c.1314T>A	ENSP00000410438.1:p.Asp438Glu
ENST00000484913.5:n.2319T>A
ENST00000496092.1:n.78T>A
ENST00000496420.5:n.1956T>A
NM_000466.2:c.2280T>A	NP_000457.1:p.Asp760Glu
NM_001282677.1:c.2109T>A	NP_001269606.1:p.Asp703Glu
NM_001282678.1:c.1656T>A	NP_001269607.1:p.Asp552Glu
XM_005250433.3:c.531T>A	XP_005250490.1:p.Asp177Glu
XR_242246.3:n.2376T>A
XM_017012319.2:c.531T>A	XP_016867808.1:p.Asp177Glu
XR_001744808.2:n.1307T>A
XR_242246.5:n.2327T>A
NM_000466.3:c.2280T>A MANE Select	NP_000457.1:p.Asp760Glu
NM_001282677.2:c.2109T>A	NP_001269606.1:p.Asp703Glu
NM_001282678.2:c.1656T>A	NP_001269607.1:p.Asp552Glu