Canonical Allele Identifier: CA456482962

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131331C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502017C>T , CM000669.2:g.92502017C>T	GRCh38
NC_000007.13:g.92131331C>T , CM000669.1:g.92131331C>T	GRCh37
NC_000007.12:g.91969267C>T	NCBI36
NG_008341.1:g.31515G>A
NG_008341.2:g.31515G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2289G>A MANE Select	ENSP00000248633.4:p.Lys763=
ENST00000248633.8:c.2289G>A	ENSP00000248633.4:p.Lys763=
ENST00000428214.5:c.2118G>A	ENSP00000394413.1:p.Lys706=
ENST00000438045.5:c.1323G>A	ENSP00000410438.1:p.Lys441=
ENST00000484913.5:n.2328G>A
ENST00000496092.1:n.87G>A
ENST00000496420.5:n.1965G>A
NM_000466.2:c.2289G>A	NP_000457.1:p.Lys763=
NM_001282677.1:c.2118G>A	NP_001269606.1:p.Lys706=
NM_001282678.1:c.1665G>A	NP_001269607.1:p.Lys555=
XM_005250433.3:c.540G>A	XP_005250490.1:p.Lys180=
XR_242246.3:n.2385G>A
XM_017012319.2:c.540G>A	XP_016867808.1:p.Lys180=
XR_001744808.2:n.1316G>A
XR_242246.5:n.2336G>A
NM_000466.3:c.2289G>A MANE Select	NP_000457.1:p.Lys763=
NM_001282677.2:c.2118G>A	NP_001269606.1:p.Lys706=
NM_001282678.2:c.1665G>A	NP_001269607.1:p.Lys555=