Canonical Allele Identifier: CA456484016

Gene: PEX1

Linked Data

• COSMIC: COSM1093068
• MyVariant Identifiers: chr7:g.92148327T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519013T>C , CM000669.2:g.92519013T>C	GRCh38
NC_000007.13:g.92148327T>C , CM000669.1:g.92148327T>C	GRCh37
NC_000007.12:g.91986263T>C	NCBI36
NG_008341.1:g.14519A>G
NG_008341.2:g.14519A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.339A>G MANE Select	ENSP00000248633.4:p.Ala113=
ENST00000248633.8:c.339A>G	ENSP00000248633.4:p.Ala113=
ENST00000428214.5:c.339A>G	ENSP00000394413.1:p.Ala113=
ENST00000438045.5:c.273+3089A>G	ENSP00000410438.1:n.273+3089A>G
ENST00000484913.5:n.343A>G
NM_000466.2:c.339A>G	NP_000457.1:p.Ala113=
NM_001282677.1:c.339A>G	NP_001269606.1:p.Ala113=
NM_001282678.1:c.-321A>G	NP_001269607.1:n.-321A>G
XR_242246.3:n.435A>G
XR_242246.5:n.386A>G
NM_000466.3:c.339A>G MANE Select	NP_000457.1:p.Ala113=
NM_001282677.2:c.339A>G	NP_001269606.1:p.Ala113=
NM_001282678.2:c.-321A>G	NP_001269607.1:n.-321A>G