Canonical Allele Identifier: CA10605594

Gene: PEX1

Linked Data

• ClinVar Variation Id: 286861
• ClinVar RCV Id: RCV000262487
• dbSNP Id: rs886043502
• MyVariant Identifiers: chr7:g.92147304G>T (hg19) ; chr7:g.92517990G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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