Canonical Allele Identifier: CA456484017
Gene: PEX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92148327T>A (hg19)

Genomic Alleles

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

Transcript Alleles

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