Canonical Allele Identifier: CA1725928358

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491369G= , CM000669.2:g.92491369G=	GRCh38
NC_000007.13:g.92120683G= , CM000669.1:g.92120683G=	GRCh37
NC_000007.12:g.91958619G=	NCBI36
NG_008341.1:g.42163C=
NG_008341.2:g.42163C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3341C= (PEX1) MANE Select	ENSP00000248633.4:p.Ser1114=
ENST00000248633.8:c.3341C= (PEX1)	ENSP00000248633.4:p.Ser1114=
ENST00000428214.5:c.3170C= (PEX1)	ENSP00000394413.1:p.Ser1057=
ENST00000438045.5:c.2375C= (PEX1)	ENSP00000410438.1:p.Ser792=
ENST00000484913.5:n.3380C= (PEX1)
ENST00000496420.5:n.4396C= (PEX1)
NM_000466.2:c.3341C= (PEX1)	NP_000457.1:p.Ser1114=
NM_001282677.1:c.3170C= (PEX1)	NP_001269606.1:p.Ser1057=
NM_001282678.1:c.2717C= (PEX1)	NP_001269607.1:p.Ser906=
XM_005250433.3:c.1592C= (PEX1)	XP_005250490.1:p.Ser531=
XR_242246.3:n.3437C= (PEX1)
XM_017012319.2:c.1592C= (PEX1)	XP_016867808.1:p.Ser531=
XR_001744808.2:n.2368C= (PEX1)
XR_001744842.2:n.2407G= (GATAD1)
XR_001744843.2:n.2338G= (GATAD1)
XR_002956472.1:n.2464G= (GATAD1)
XR_002956473.1:n.2495G= (GATAD1)
XR_002956474.1:n.2412G= (GATAD1)
XR_242246.5:n.3388C= (PEX1)
XR_927494.3:n.1189G= (GATAD1)
XR_927500.3:n.1186G= (GATAD1)
XR_927503.3:n.1120G= (GATAD1)
NM_000466.3:c.3341C= (PEX1) MANE Select	NP_000457.1:p.Ser1114=
NM_001282677.2:c.3170C= (PEX1)	NP_001269606.1:p.Ser1057=
NM_001282678.2:c.2717C= (PEX1)	NP_001269607.1:p.Ser906=