Canonical Allele Identifier: CA456481428

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123622A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494308A>G , CM000669.2:g.92494308A>G	GRCh38
NC_000007.13:g.92123622A>G , CM000669.1:g.92123622A>G	GRCh37
NC_000007.12:g.91961558A>G	NCBI36
NG_008341.1:g.39224T>C
NG_008341.2:g.39224T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3015T>C (PEX1) MANE Select	ENSP00000248633.4:p.Cys1005=
ENST00000248633.8:c.3015T>C (PEX1)	ENSP00000248633.4:p.Cys1005=
ENST00000428214.5:c.2844T>C (PEX1)	ENSP00000394413.1:p.Cys948=
ENST00000438045.5:c.2049T>C (PEX1)	ENSP00000410438.1:p.Cys683=
ENST00000484913.5:n.3054T>C (PEX1)
ENST00000496420.5:n.2907T>C (PEX1)
NM_000466.2:c.3015T>C (PEX1)	NP_000457.1:p.Cys1005=
NM_001282677.1:c.2844T>C (PEX1)	NP_001269606.1:p.Cys948=
NM_001282678.1:c.2391T>C (PEX1)	NP_001269607.1:p.Cys797=
XM_005250433.3:c.1266T>C (PEX1)	XP_005250490.1:p.Cys422=
XR_242246.3:n.3111T>C (PEX1)
XM_017012319.2:c.1266T>C (PEX1)	XP_016867808.1:p.Cys422=
XR_001744808.2:n.2042T>C (PEX1)
XR_001744843.2:n.5277A>G (GATAD1)
XR_242246.5:n.3062T>C (PEX1)
XR_927494.3:n.4128A>G (GATAD1)
XR_927503.3:n.4059A>G (GATAD1)
NM_000466.3:c.3015T>C (PEX1) MANE Select	NP_000457.1:p.Cys1005=
NM_001282677.2:c.2844T>C (PEX1)	NP_001269606.1:p.Cys948=
NM_001282678.2:c.2391T>C (PEX1)	NP_001269607.1:p.Cys797=