Canonical Allele Identifier: CA456483961

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1152143
• ClinVar RCV Id: RCV001493330
• dbSNP Id: rs2116248825
• gnomAD v4: 7-92518190-G-T
• MyVariant Identifiers: chr7:g.92147504G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518190G>T , CM000669.2:g.92518190G>T	GRCh38
NC_000007.13:g.92147504G>T , CM000669.1:g.92147504G>T	GRCh37
NC_000007.12:g.91985440G>T	NCBI36
NG_008341.1:g.15342C>A
NG_008341.2:g.15342C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.423C>A MANE Select	ENSP00000248633.4:p.Ala141=
ENST00000248633.8:c.423C>A	ENSP00000248633.4:p.Ala141=
ENST00000428214.5:c.423C>A	ENSP00000394413.1:p.Ala141=
ENST00000438045.5:c.273+3912C>A	ENSP00000410438.1:n.273+3912C>A
ENST00000484913.5:n.462C>A
NM_000466.2:c.423C>A	NP_000457.1:p.Ala141=
NM_001282677.1:c.423C>A	NP_001269606.1:p.Ala141=
NM_001282678.1:c.-202C>A	NP_001269607.1:n.-202C>A
XR_242246.3:n.519C>A
XR_242246.5:n.470C>A
NM_000466.3:c.423C>A MANE Select	NP_000457.1:p.Ala141=
NM_001282677.2:c.423C>A	NP_001269606.1:p.Ala141=
NM_001282678.2:c.-202C>A	NP_001269607.1:n.-202C>A