Canonical Allele Identifier: CA368183934

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504860A>T , CM000669.2:g.92504860A>T	GRCh38
NC_000007.13:g.92134174A>T , CM000669.1:g.92134174A>T	GRCh37
NC_000007.12:g.91972110A>T	NCBI36
NG_008341.1:g.28672T>A
NG_008341.2:g.28672T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1943T>A MANE Select	ENSP00000248633.4:p.Phe648Tyr
ENST00000248633.8:c.1943T>A	ENSP00000248633.4:p.Phe648Tyr
ENST00000428214.5:c.1900+1388T>A	ENSP00000394413.1:n.1900+1388T>A
ENST00000438045.5:c.977T>A	ENSP00000410438.1:p.Phe326Tyr
ENST00000484913.5:n.1982T>A
ENST00000496420.5:n.1619T>A
NM_000466.2:c.1943T>A	NP_000457.1:p.Phe648Tyr
NM_001282677.1:c.1900+1388T>A	NP_001269606.1:n.1900+1388T>A
NM_001282678.1:c.1319T>A	NP_001269607.1:p.Phe440Tyr
XM_005250433.3:c.194T>A	XP_005250490.1:p.Phe65Tyr
XR_242246.3:n.2039T>A
XM_017012319.2:c.194T>A	XP_016867808.1:p.Phe65Tyr
XR_001744808.2:n.970T>A
XR_242246.5:n.1990T>A
NM_000466.3:c.1943T>A MANE Select	NP_000457.1:p.Phe648Tyr
NM_001282677.2:c.1900+1388T>A	NP_001269606.1:n.1900+1388T>A
NM_001282678.2:c.1319T>A	NP_001269607.1:p.Phe440Tyr