Canonical Allele Identifier: CA456483743

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1909504
• ClinVar RCV Id: RCV002600298
• gnomAD v4: 7-92511028-C-G
• MyVariant Identifiers: chr7:g.92140342C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511028C>G , CM000669.2:g.92511028C>G	GRCh38
NC_000007.13:g.92140342C>G , CM000669.1:g.92140342C>G	GRCh37
NC_000007.12:g.91978278C>G	NCBI36
NG_008341.1:g.22504G>C
NG_008341.2:g.22504G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1503G>C MANE Select	ENSP00000248633.4:p.Leu501=
ENST00000248633.8:c.1503G>C	ENSP00000248633.4:p.Leu501=
ENST00000422866.1:c.404G>C
ENST00000428214.5:c.1503G>C	ENSP00000394413.1:p.Leu501=
ENST00000438045.5:c.537G>C	ENSP00000410438.1:p.Leu179=
ENST00000476923.1:n.264G>C
ENST00000484913.5:n.1542G>C
NM_000466.2:c.1503G>C	NP_000457.1:p.Leu501=
NM_001282677.1:c.1503G>C	NP_001269606.1:p.Leu501=
NM_001282678.1:c.879G>C	NP_001269607.1:p.Leu293=
XM_005250433.3:c.-164G>C	XP_005250490.1:n.-164G>C
XR_242246.3:n.1599G>C
XM_017012319.2:c.-164G>C	XP_016867808.1:n.-164G>C
XR_001744808.2:n.613G>C
XR_242246.5:n.1550G>C
NM_000466.3:c.1503G>C MANE Select	NP_000457.1:p.Leu501=
NM_001282677.2:c.1503G>C	NP_001269606.1:p.Leu501=
NM_001282678.2:c.879G>C	NP_001269607.1:p.Leu293=