Canonical Allele Identifier: CA4341561

Gene: PEX1

Linked Data

• ClinVar Variation Id: 724474
• ClinVar RCV Id: RCV000898391 ; RCV003922913
• dbSNP Id: rs145609203
• ExAC: 7:92147163 A / G
• gnomAD v2: 7-92147163-A-G
• gnomAD v3: 7-92517849-A-G
• gnomAD v4: 7-92517849-A-G
• MyVariant Identifiers: chr7:g.92147163A>G (hg19) ; chr7:g.92517849A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517849A>G , CM000669.2:g.92517849A>G	GRCh38
NC_000007.13:g.92147163A>G , CM000669.1:g.92147163A>G	GRCh37
NC_000007.12:g.91985099A>G	NCBI36
NG_008341.1:g.15683T>C
NG_008341.2:g.15683T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.666T>C MANE Select	ENSP00000248633.4:p.Thr222=
ENST00000248633.8:c.666T>C	ENSP00000248633.4:p.Thr222=
ENST00000428214.5:c.666T>C	ENSP00000394413.1:p.Thr222=
ENST00000438045.5:c.274-3882T>C	ENSP00000410438.1:n.274-3882T>C
ENST00000484913.5:n.705T>C
NM_000466.2:c.666T>C	NP_000457.1:p.Thr222=
NM_001282677.1:c.666T>C	NP_001269606.1:p.Thr222=
NM_001282678.1:c.42T>C	NP_001269607.1:p.Thr14=
XR_242246.3:n.762T>C
XR_242246.5:n.713T>C
NM_000466.3:c.666T>C MANE Select	NP_000457.1:p.Thr222=
NM_001282677.2:c.666T>C	NP_001269606.1:p.Thr222=
NM_001282678.2:c.42T>C	NP_001269607.1:p.Thr14=