Canonical Allele Identifier: CA4341373

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1568648
• ClinVar RCV Id: RCV002218509
• dbSNP Id: rs757119959
• ExAC: 7:92140278 G / A
• gnomAD v2: 7-92140278-G-A
• gnomAD v4: 7-92510964-G-A
• MyVariant Identifiers: chr7:g.92140278G>A (hg19) ; chr7:g.92510964G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510964G>A , CM000669.2:g.92510964G>A	GRCh38
NC_000007.13:g.92140278G>A , CM000669.1:g.92140278G>A	GRCh37
NC_000007.12:g.91978214G>A	NCBI36
NG_008341.1:g.22568C>T
NG_008341.2:g.22568C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1567C>T MANE Select	ENSP00000248633.4:p.Leu523=
ENST00000248633.8:c.1567C>T	ENSP00000248633.4:p.Leu523=
ENST00000422866.1:c.468C>T
ENST00000428214.5:c.1567C>T	ENSP00000394413.1:p.Leu523=
ENST00000438045.5:c.601C>T	ENSP00000410438.1:p.Leu201=
ENST00000476923.1:n.328C>T
ENST00000484913.5:n.1606C>T
NM_000466.2:c.1567C>T	NP_000457.1:p.Leu523=
NM_001282677.1:c.1567C>T	NP_001269606.1:p.Leu523=
NM_001282678.1:c.943C>T	NP_001269607.1:p.Leu315=
XM_005250433.3:c.-100C>T	XP_005250490.1:n.-100C>T
XR_242246.3:n.1663C>T
XM_017012319.2:c.-100C>T	XP_016867808.1:n.-100C>T
XR_001744808.2:n.677C>T
XR_242246.5:n.1614C>T
NM_000466.3:c.1567C>T MANE Select	NP_000457.1:p.Leu523=
NM_001282677.2:c.1567C>T	NP_001269606.1:p.Leu523=
NM_001282678.2:c.943C>T	NP_001269607.1:p.Leu315=