Canonical Allele Identifier: CA456481964

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92129054A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499740A>T , CM000669.2:g.92499740A>T	GRCh38
NC_000007.13:g.92129054A>T , CM000669.1:g.92129054A>T	GRCh37
NC_000007.12:g.91966990A>T	NCBI36
NG_008341.1:g.33792T>A
NG_008341.2:g.33792T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2682T>A MANE Select	ENSP00000248633.4:p.Ile894=
ENST00000248633.8:c.2682T>A	ENSP00000248633.4:p.Ile894=
ENST00000428214.5:c.2511T>A	ENSP00000394413.1:p.Ile837=
ENST00000438045.5:c.1716T>A	ENSP00000410438.1:p.Ile572=
ENST00000484913.5:n.2721T>A
ENST00000496420.5:n.2574T>A
NM_000466.2:c.2682T>A	NP_000457.1:p.Ile894=
NM_001282677.1:c.2511T>A	NP_001269606.1:p.Ile837=
NM_001282678.1:c.2058T>A	NP_001269607.1:p.Ile686=
XM_005250433.3:c.933T>A	XP_005250490.1:p.Ile311=
XR_242246.3:n.2778T>A
XM_017012319.2:c.933T>A	XP_016867808.1:p.Ile311=
XR_001744808.2:n.1709T>A
XR_242246.5:n.2729T>A
NM_000466.3:c.2682T>A MANE Select	NP_000457.1:p.Ile894=
NM_001282677.2:c.2511T>A	NP_001269606.1:p.Ile837=
NM_001282678.2:c.2058T>A	NP_001269607.1:p.Ile686=