Canonical Allele Identifier: CA368202536

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2677606
• ClinVar RCV Id: RCV003476740
• gnomAD v4: 7-92518231-G-A
• MyVariant Identifiers: chr7:g.92147545G>A (hg19) ; chr7:g.92518231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518231G>A , CM000669.2:g.92518231G>A	GRCh38
NC_000007.13:g.92147545G>A , CM000669.1:g.92147545G>A	GRCh37
NC_000007.12:g.91985481G>A	NCBI36
NG_008341.1:g.15301C>T
NG_008341.2:g.15301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.382C>T MANE Select	ENSP00000248633.4:p.Gln128Ter
ENST00000248633.8:c.382C>T	ENSP00000248633.4:p.Gln128Ter
ENST00000428214.5:c.382C>T	ENSP00000394413.1:p.Gln128Ter
ENST00000438045.5:c.273+3871C>T	ENSP00000410438.1:n.273+3871C>T
ENST00000484913.5:n.421C>T
NM_000466.2:c.382C>T	NP_000457.1:p.Gln128Ter
NM_001282677.1:c.382C>T	NP_001269606.1:p.Gln128Ter
NM_001282678.1:c.-243C>T	NP_001269607.1:n.-243C>T
XR_242246.3:n.478C>T
XR_242246.5:n.429C>T
NM_000466.3:c.382C>T MANE Select	NP_000457.1:p.Gln128Ter
NM_001282677.2:c.382C>T	NP_001269606.1:p.Gln128Ter
NM_001282678.2:c.-243C>T	NP_001269607.1:n.-243C>T