Canonical Allele Identifier: CA4341565

Gene: PEX1

Linked Data

• ClinVar Variation Id: 285000
• ClinVar RCV Id: RCV000306324 ; RCV000889675 ; RCV001355075 ; RCV001420972 ; RCV003977775
• dbSNP Id: rs141798874
• ExAC: 7:92147192 G / A
• gnomAD v2: 7-92147192-G-A
• gnomAD v3: 7-92517878-G-A
• gnomAD v4: 7-92517878-G-A
• MyVariant Identifiers: chr7:g.92147192G>A (hg19) ; chr7:g.92517878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517878G>A , CM000669.2:g.92517878G>A	GRCh38
NC_000007.13:g.92147192G>A , CM000669.1:g.92147192G>A	GRCh37
NC_000007.12:g.91985128G>A	NCBI36
NG_008341.1:g.15654C>T
NG_008341.2:g.15654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.637C>T MANE Select	ENSP00000248633.4:p.Leu213Phe
ENST00000248633.8:c.637C>T	ENSP00000248633.4:p.Leu213Phe
ENST00000428214.5:c.637C>T	ENSP00000394413.1:p.Leu213Phe
ENST00000438045.5:c.274-3911C>T	ENSP00000410438.1:n.274-3911C>T
ENST00000484913.5:n.676C>T
NM_000466.2:c.637C>T	NP_000457.1:p.Leu213Phe
NM_001282677.1:c.637C>T	NP_001269606.1:p.Leu213Phe
NM_001282678.1:c.13C>T	NP_001269607.1:p.Leu5Phe
XR_242246.3:n.733C>T
XR_242246.5:n.684C>T
NM_000466.3:c.637C>T MANE Select	NP_000457.1:p.Leu213Phe
NM_001282677.2:c.637C>T	NP_001269606.1:p.Leu213Phe
NM_001282678.2:c.13C>T	NP_001269607.1:p.Leu5Phe