Canonical Allele Identifier: CA456484073

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2865371
• ClinVar RCV Id: RCV003759368
• MyVariant Identifiers: chr7:g.92151431G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522117G>C , CM000669.2:g.92522117G>C	GRCh38
NC_000007.13:g.92151431G>C , CM000669.1:g.92151431G>C	GRCh37
NC_000007.12:g.91989367G>C	NCBI36
NG_008341.1:g.11415C>G
NG_008341.2:g.11415C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.258C>G MANE Select	ENSP00000248633.4:p.Leu86=
ENST00000248633.8:c.258C>G	ENSP00000248633.4:p.Leu86=
ENST00000428214.5:c.258C>G	ENSP00000394413.1:p.Leu86=
ENST00000438045.5:c.258C>G	ENSP00000410438.1:p.Leu86=
ENST00000484913.5:n.262C>G
NM_000466.2:c.258C>G	NP_000457.1:p.Leu86=
NM_001282677.1:c.258C>G	NP_001269606.1:p.Leu86=
NM_001282678.1:c.-402C>G	NP_001269607.1:n.-402C>G
XR_242246.3:n.354C>G
XR_242246.5:n.305C>G
NM_000466.3:c.258C>G MANE Select	NP_000457.1:p.Leu86=
NM_001282677.2:c.258C>G	NP_001269606.1:p.Leu86=
NM_001282678.2:c.-402C>G	NP_001269607.1:n.-402C>G