Canonical Allele Identifier: CA4341143

Gene: PEX1

Linked Data

• ClinVar Variation Id: 594468
• ClinVar RCV Id: RCV000729761 ; RCV001862182
• dbSNP Id: rs747899377
• ExAC: 7:92131245 A / G
• gnomAD v2: 7-92131245-A-G
• gnomAD v3: 7-92501931-A-G
• gnomAD v4: 7-92501931-A-G
• MyVariant Identifiers: chr7:g.92131245A>G (hg19) ; chr7:g.92501931A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501931A>G , CM000669.2:g.92501931A>G	GRCh38
NC_000007.13:g.92131245A>G , CM000669.1:g.92131245A>G	GRCh37
NC_000007.12:g.91969181A>G	NCBI36
NG_008341.1:g.31601T>C
NG_008341.2:g.31601T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2375T>C MANE Select	ENSP00000248633.4:p.Ile792Thr
ENST00000248633.8:c.2375T>C	ENSP00000248633.4:p.Ile792Thr
ENST00000428214.5:c.2204T>C	ENSP00000394413.1:p.Ile735Thr
ENST00000438045.5:c.1409T>C	ENSP00000410438.1:p.Ile470Thr
ENST00000484913.5:n.2414T>C
ENST00000496092.1:n.173T>C
ENST00000496420.5:n.2051T>C
NM_000466.2:c.2375T>C	NP_000457.1:p.Ile792Thr
NM_001282677.1:c.2204T>C	NP_001269606.1:p.Ile735Thr
NM_001282678.1:c.1751T>C	NP_001269607.1:p.Ile584Thr
XM_005250433.3:c.626T>C	XP_005250490.1:p.Ile209Thr
XR_242246.3:n.2471T>C
XM_017012319.2:c.626T>C	XP_016867808.1:p.Ile209Thr
XR_001744808.2:n.1402T>C
XR_242246.5:n.2422T>C
NM_000466.3:c.2375T>C MANE Select	NP_000457.1:p.Ile792Thr
NM_001282677.2:c.2204T>C	NP_001269606.1:p.Ile735Thr
NM_001282678.2:c.1751T>C	NP_001269607.1:p.Ile584Thr