Canonical Allele Identifier: CA368173145

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2689676
• ClinVar RCV Id: RCV003488195
• MyVariant Identifiers: chr7:g.92129028A>G (hg19) ; chr7:g.92499714A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499714A>G , CM000669.2:g.92499714A>G	GRCh38
NC_000007.13:g.92129028A>G , CM000669.1:g.92129028A>G	GRCh37
NC_000007.12:g.91966964A>G	NCBI36
NG_008341.1:g.33818T>C
NG_008341.2:g.33818T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2708T>C MANE Select	ENSP00000248633.4:p.Ile903Thr
ENST00000248633.8:c.2708T>C	ENSP00000248633.4:p.Ile903Thr
ENST00000428214.5:c.2537T>C	ENSP00000394413.1:p.Ile846Thr
ENST00000438045.5:c.1742T>C	ENSP00000410438.1:p.Ile581Thr
ENST00000484913.5:n.2747T>C
ENST00000496420.5:n.2600T>C
NM_000466.2:c.2708T>C	NP_000457.1:p.Ile903Thr
NM_001282677.1:c.2537T>C	NP_001269606.1:p.Ile846Thr
NM_001282678.1:c.2084T>C	NP_001269607.1:p.Ile695Thr
XM_005250433.3:c.959T>C	XP_005250490.1:p.Ile320Thr
XR_242246.3:n.2804T>C
XM_017012319.2:c.959T>C	XP_016867808.1:p.Ile320Thr
XR_001744808.2:n.1735T>C
XR_242246.5:n.2755T>C
NM_000466.3:c.2708T>C MANE Select	NP_000457.1:p.Ile903Thr
NM_001282677.2:c.2537T>C	NP_001269606.1:p.Ile846Thr
NM_001282678.2:c.2084T>C	NP_001269607.1:p.Ile695Thr