Canonical Allele Identifier: CA456624417

Gene: PEX1

Linked Data

• COSMIC: COSM4498692
• MyVariant Identifiers: chr7:g.92147304G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517990G>A , CM000669.2:g.92517990G>A	GRCh38
NC_000007.13:g.92147304G>A , CM000669.1:g.92147304G>A	GRCh37
NC_000007.12:g.91985240G>A	NCBI36
NG_008341.1:g.15542C>T
NG_008341.2:g.15542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.525C>T MANE Select	ENSP00000248633.4:p.Leu175=
ENST00000248633.8:c.525C>T	ENSP00000248633.4:p.Leu175=
ENST00000428214.5:c.525C>T	ENSP00000394413.1:p.Leu175=
ENST00000438045.5:c.274-4023C>T	ENSP00000410438.1:n.274-4023C>T
ENST00000484913.5:n.564C>T
NM_000466.2:c.525C>T	NP_000457.1:p.Leu175=
NM_001282677.1:c.525C>T	NP_001269606.1:p.Leu175=
NM_001282678.1:c.-100C>T	NP_001269607.1:n.-100C>T
XR_242246.3:n.621C>T
XR_242246.5:n.572C>T
NM_000466.3:c.525C>T MANE Select	NP_000457.1:p.Leu175=
NM_001282677.2:c.525C>T	NP_001269606.1:p.Leu175=
NM_001282678.2:c.-100C>T	NP_001269607.1:n.-100C>T