Canonical Allele Identifier: CA368202227

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2254447
• ClinVar RCV Id: RCV002787535
• gnomAD v4: 7-92518184-A-T
• MyVariant Identifiers: chr7:g.92147498A>T (hg19) ; chr7:g.92518184A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518184A>T , CM000669.2:g.92518184A>T	GRCh38
NC_000007.13:g.92147498A>T , CM000669.1:g.92147498A>T	GRCh37
NC_000007.12:g.91985434A>T	NCBI36
NG_008341.1:g.15348T>A
NG_008341.2:g.15348T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.429T>A MANE Select	ENSP00000248633.4:p.Phe143Leu
ENST00000248633.8:c.429T>A	ENSP00000248633.4:p.Phe143Leu
ENST00000428214.5:c.429T>A	ENSP00000394413.1:p.Phe143Leu
ENST00000438045.5:c.273+3918T>A	ENSP00000410438.1:n.273+3918T>A
ENST00000484913.5:n.468T>A
NM_000466.2:c.429T>A	NP_000457.1:p.Phe143Leu
NM_001282677.1:c.429T>A	NP_001269606.1:p.Phe143Leu
NM_001282678.1:c.-196T>A	NP_001269607.1:n.-196T>A
XR_242246.3:n.525T>A
XR_242246.5:n.476T>A
NM_000466.3:c.429T>A MANE Select	NP_000457.1:p.Phe143Leu
NM_001282677.2:c.429T>A	NP_001269606.1:p.Phe143Leu
NM_001282678.2:c.-196T>A	NP_001269607.1:n.-196T>A