Canonical Allele Identifier: CA456483298

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2032976
• ClinVar RCV Id: RCV002881578
• dbSNP Id: rs1264855030
• gnomAD v3: 7-92504811-A-G
• gnomAD v4: 7-92504811-A-G
• MyVariant Identifiers: chr7:g.92134125A>G (hg19) ; chr7:g.92504811A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504811A>G , CM000669.2:g.92504811A>G	GRCh38
NC_000007.13:g.92134125A>G , CM000669.1:g.92134125A>G	GRCh37
NC_000007.12:g.91972061A>G	NCBI36
NG_008341.1:g.28721T>C
NG_008341.2:g.28721T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1992T>C MANE Select	ENSP00000248633.4:p.Leu664=
ENST00000248633.8:c.1992T>C	ENSP00000248633.4:p.Leu664=
ENST00000428214.5:c.1900+1437T>C	ENSP00000394413.1:n.1900+1437T>C
ENST00000438045.5:c.1026T>C	ENSP00000410438.1:p.Leu342=
ENST00000484913.5:n.2031T>C
ENST00000496420.5:n.1668T>C
NM_000466.2:c.1992T>C	NP_000457.1:p.Leu664=
NM_001282677.1:c.1900+1437T>C	NP_001269606.1:n.1900+1437T>C
NM_001282678.1:c.1368T>C	NP_001269607.1:p.Leu456=
XM_005250433.3:c.243T>C	XP_005250490.1:p.Leu81=
XR_242246.3:n.2088T>C
XM_017012319.2:c.243T>C	XP_016867808.1:p.Leu81=
XR_001744808.2:n.1019T>C
XR_242246.5:n.2039T>C
NM_000466.3:c.1992T>C MANE Select	NP_000457.1:p.Leu664=
NM_001282677.2:c.1900+1437T>C	NP_001269606.1:n.1900+1437T>C
NM_001282678.2:c.1368T>C	NP_001269607.1:p.Leu456=