Canonical Allele Identifier: CA456483495
Gene: PEX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92135626G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506312G>A , CM000669.2:g.92506312G>A GRCh38
NC_000007.13:g.92135626G>A , CM000669.1:g.92135626G>A GRCh37
NC_000007.12:g.91973562G>A NCBI36
NG_008341.1:g.27220C>T
NG_008341.2:g.27220C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1836C>T MANE Select ENSP00000248633.4:p.Ile612=
ENST00000248633.8:c.1836C>T ENSP00000248633.4:p.Ile612=
ENST00000422866.1:c.654C>T
ENST00000428214.5:c.1836C>T ENSP00000394413.1:p.Ile612=
ENST00000438045.5:c.870C>T ENSP00000410438.1:p.Ile290=
ENST00000484913.5:n.1875C>T
ENST00000496420.5:n.1512C>T
NM_000466.2:c.1836C>T NP_000457.1:p.Ile612=
NM_001282677.1:c.1836C>T NP_001269606.1:p.Ile612=
NM_001282678.1:c.1212C>T NP_001269607.1:p.Ile404=
XM_005250433.3:c.87C>T XP_005250490.1:p.Ile29=
XR_242246.3:n.1932C>T
XM_017012319.2:c.87C>T XP_016867808.1:p.Ile29=
XR_001744808.2:n.863C>T
XR_242246.5:n.1883C>T
NM_000466.3:c.1836C>T MANE Select NP_000457.1:p.Ile612=
NM_001282677.2:c.1836C>T NP_001269606.1:p.Ile612=
NM_001282678.2:c.1212C>T NP_001269607.1:p.Ile404=