Canonical Allele Identifier: CA456483742

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92140342C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511028C>T , CM000669.2:g.92511028C>T	GRCh38
NC_000007.13:g.92140342C>T , CM000669.1:g.92140342C>T	GRCh37
NC_000007.12:g.91978278C>T	NCBI36
NG_008341.1:g.22504G>A
NG_008341.2:g.22504G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1503G>A MANE Select	ENSP00000248633.4:p.Leu501=
ENST00000248633.8:c.1503G>A	ENSP00000248633.4:p.Leu501=
ENST00000422866.1:c.404G>A
ENST00000428214.5:c.1503G>A	ENSP00000394413.1:p.Leu501=
ENST00000438045.5:c.537G>A	ENSP00000410438.1:p.Leu179=
ENST00000476923.1:n.264G>A
ENST00000484913.5:n.1542G>A
NM_000466.2:c.1503G>A	NP_000457.1:p.Leu501=
NM_001282677.1:c.1503G>A	NP_001269606.1:p.Leu501=
NM_001282678.1:c.879G>A	NP_001269607.1:p.Leu293=
XM_005250433.3:c.-164G>A	XP_005250490.1:n.-164G>A
XR_242246.3:n.1599G>A
XM_017012319.2:c.-164G>A	XP_016867808.1:n.-164G>A
XR_001744808.2:n.613G>A
XR_242246.5:n.1550G>A
NM_000466.3:c.1503G>A MANE Select	NP_000457.1:p.Leu501=
NM_001282677.2:c.1503G>A	NP_001269606.1:p.Leu501=
NM_001282678.2:c.879G>A	NP_001269607.1:p.Leu293=