Canonical Allele Identifier: CA456624262

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146857T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517543T>A , CM000669.2:g.92517543T>A	GRCh38
NC_000007.13:g.92146857T>A , CM000669.1:g.92146857T>A	GRCh37
NC_000007.12:g.91984793T>A	NCBI36
NG_008341.1:g.15989A>T
NG_008341.2:g.15989A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.972A>T MANE Select	ENSP00000248633.4:p.Val324=
ENST00000248633.8:c.972A>T	ENSP00000248633.4:p.Val324=
ENST00000428214.5:c.972A>T	ENSP00000394413.1:p.Val324=
ENST00000438045.5:c.274-3576A>T	ENSP00000410438.1:n.274-3576A>T
ENST00000484913.5:n.1011A>T
NM_000466.2:c.972A>T	NP_000457.1:p.Val324=
NM_001282677.1:c.972A>T	NP_001269606.1:p.Val324=
NM_001282678.1:c.348A>T	NP_001269607.1:p.Val116=
XR_242246.3:n.1068A>T
XM_017012319.2:c.-695A>T	XP_016867808.1:n.-695A>T
XR_001744808.2:n.82A>T
XR_242246.5:n.1019A>T
NM_000466.3:c.972A>T MANE Select	NP_000457.1:p.Val324=
NM_001282677.2:c.972A>T	NP_001269606.1:p.Val324=
NM_001282678.2:c.348A>T	NP_001269607.1:p.Val116=