Canonical Allele Identifier: CA456483981

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1093174
• ClinVar RCV Id: RCV001413256
• dbSNP Id: rs1225400009
• gnomAD v4: 7-92518217-A-G
• MyVariant Identifiers: chr7:g.92147531A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518217A>G , CM000669.2:g.92518217A>G	GRCh38
NC_000007.13:g.92147531A>G , CM000669.1:g.92147531A>G	GRCh37
NC_000007.12:g.91985467A>G	NCBI36
NG_008341.1:g.15315T>C
NG_008341.2:g.15315T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.396T>C MANE Select	ENSP00000248633.4:p.Asp132=
ENST00000248633.8:c.396T>C	ENSP00000248633.4:p.Asp132=
ENST00000428214.5:c.396T>C	ENSP00000394413.1:p.Asp132=
ENST00000438045.5:c.273+3885T>C	ENSP00000410438.1:n.273+3885T>C
ENST00000484913.5:n.435T>C
NM_000466.2:c.396T>C	NP_000457.1:p.Asp132=
NM_001282677.1:c.396T>C	NP_001269606.1:p.Asp132=
NM_001282678.1:c.-229T>C	NP_001269607.1:n.-229T>C
XR_242246.3:n.492T>C
XR_242246.5:n.443T>C
NM_000466.3:c.396T>C MANE Select	NP_000457.1:p.Asp132=
NM_001282677.2:c.396T>C	NP_001269606.1:p.Asp132=
NM_001282678.2:c.-229T>C	NP_001269607.1:n.-229T>C