Canonical Allele Identifier: CA456623849

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146713T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517399T>A , CM000669.2:g.92517399T>A	GRCh38
NC_000007.13:g.92146713T>A , CM000669.1:g.92146713T>A	GRCh37
NC_000007.12:g.91984649T>A	NCBI36
NG_008341.1:g.16133A>T
NG_008341.2:g.16133A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1116A>T MANE Select	ENSP00000248633.4:p.Ser372=
ENST00000248633.8:c.1116A>T	ENSP00000248633.4:p.Ser372=
ENST00000422866.1:c.17A>T
ENST00000428214.5:c.1116A>T	ENSP00000394413.1:p.Ser372=
ENST00000438045.5:c.274-3432A>T	ENSP00000410438.1:n.274-3432A>T
ENST00000484913.5:n.1155A>T
NM_000466.2:c.1116A>T	NP_000457.1:p.Ser372=
NM_001282677.1:c.1116A>T	NP_001269606.1:p.Ser372=
NM_001282678.1:c.492A>T	NP_001269607.1:p.Ser164=
XR_242246.3:n.1212A>T
XM_017012319.2:c.-551A>T	XP_016867808.1:n.-551A>T
XR_001744808.2:n.226A>T
XR_242246.5:n.1163A>T
NM_000466.3:c.1116A>T MANE Select	NP_000457.1:p.Ser372=
NM_001282677.2:c.1116A>T	NP_001269606.1:p.Ser372=
NM_001282678.2:c.492A>T	NP_001269607.1:p.Ser164=