Canonical Allele Identifier: CA456481606

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123856T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494542T>G , CM000669.2:g.92494542T>G	GRCh38
NC_000007.13:g.92123856T>G , CM000669.1:g.92123856T>G	GRCh37
NC_000007.12:g.91961792T>G	NCBI36
NG_008341.1:g.38990A>C
NG_008341.2:g.38990A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2871A>C (PEX1) MANE Select	ENSP00000248633.4:p.Thr957=
ENST00000248633.8:c.2871A>C (PEX1)	ENSP00000248633.4:p.Thr957=
ENST00000428214.5:c.2700A>C (PEX1)	ENSP00000394413.1:p.Thr900=
ENST00000438045.5:c.1905A>C (PEX1)	ENSP00000410438.1:p.Thr635=
ENST00000484913.5:n.2910A>C (PEX1)
ENST00000496420.5:n.2763A>C (PEX1)
NM_000466.2:c.2871A>C (PEX1)	NP_000457.1:p.Thr957=
NM_001282677.1:c.2700A>C (PEX1)	NP_001269606.1:p.Thr900=
NM_001282678.1:c.2247A>C (PEX1)	NP_001269607.1:p.Thr749=
XM_005250433.3:c.1122A>C (PEX1)	XP_005250490.1:p.Thr374=
XR_242246.3:n.2967A>C (PEX1)
XM_017012319.2:c.1122A>C (PEX1)	XP_016867808.1:p.Thr374=
XR_001744808.2:n.1898A>C (PEX1)
XR_001744843.2:n.5511T>G (GATAD1)
XR_242246.5:n.2918A>C (PEX1)
XR_927494.3:n.4362T>G (GATAD1)
XR_927503.3:n.4293T>G (GATAD1)
NM_000466.3:c.2871A>C (PEX1) MANE Select	NP_000457.1:p.Thr957=
NM_001282677.2:c.2700A>C (PEX1)	NP_001269606.1:p.Thr900=
NM_001282678.2:c.2247A>C (PEX1)	NP_001269607.1:p.Thr749=