Canonical Allele Identifier: CA368173189

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92129032A>T (hg19) ; chr7:g.92499718A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499718A>T , CM000669.2:g.92499718A>T	GRCh38
NC_000007.13:g.92129032A>T , CM000669.1:g.92129032A>T	GRCh37
NC_000007.12:g.91966968A>T	NCBI36
NG_008341.1:g.33814T>A
NG_008341.2:g.33814T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2704T>A MANE Select	ENSP00000248633.4:p.Phe902Ile
ENST00000248633.8:c.2704T>A	ENSP00000248633.4:p.Phe902Ile
ENST00000428214.5:c.2533T>A	ENSP00000394413.1:p.Phe845Ile
ENST00000438045.5:c.1738T>A	ENSP00000410438.1:p.Phe580Ile
ENST00000484913.5:n.2743T>A
ENST00000496420.5:n.2596T>A
NM_000466.2:c.2704T>A	NP_000457.1:p.Phe902Ile
NM_001282677.1:c.2533T>A	NP_001269606.1:p.Phe845Ile
NM_001282678.1:c.2080T>A	NP_001269607.1:p.Phe694Ile
XM_005250433.3:c.955T>A	XP_005250490.1:p.Phe319Ile
XR_242246.3:n.2800T>A
XM_017012319.2:c.955T>A	XP_016867808.1:p.Phe319Ile
XR_001744808.2:n.1731T>A
XR_242246.5:n.2751T>A
NM_000466.3:c.2704T>A MANE Select	NP_000457.1:p.Phe902Ile
NM_001282677.2:c.2533T>A	NP_001269606.1:p.Phe845Ile
NM_001282678.2:c.2080T>A	NP_001269607.1:p.Phe694Ile