Canonical Allele Identifier: CA456483738

Gene: PEX1

Linked Data

• COSMIC: COSM3765371
• MyVariant Identifiers: chr7:g.92140336T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511022T>A , CM000669.2:g.92511022T>A	GRCh38
NC_000007.13:g.92140336T>A , CM000669.1:g.92140336T>A	GRCh37
NC_000007.12:g.91978272T>A	NCBI36
NG_008341.1:g.22510A>T
NG_008341.2:g.22510A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1509A>T MANE Select	ENSP00000248633.4:p.Ile503=
ENST00000248633.8:c.1509A>T	ENSP00000248633.4:p.Ile503=
ENST00000422866.1:c.410A>T
ENST00000428214.5:c.1509A>T	ENSP00000394413.1:p.Ile503=
ENST00000438045.5:c.543A>T	ENSP00000410438.1:p.Ile181=
ENST00000476923.1:n.270A>T
ENST00000484913.5:n.1548A>T
NM_000466.2:c.1509A>T	NP_000457.1:p.Ile503=
NM_001282677.1:c.1509A>T	NP_001269606.1:p.Ile503=
NM_001282678.1:c.885A>T	NP_001269607.1:p.Ile295=
XM_005250433.3:c.-158A>T	XP_005250490.1:n.-158A>T
XR_242246.3:n.1605A>T
XM_017012319.2:c.-158A>T	XP_016867808.1:n.-158A>T
XR_001744808.2:n.619A>T
XR_242246.5:n.1556A>T
NM_000466.3:c.1509A>T MANE Select	NP_000457.1:p.Ile503=
NM_001282677.2:c.1509A>T	NP_001269606.1:p.Ile503=
NM_001282678.2:c.885A>T	NP_001269607.1:p.Ile295=