Canonical Allele Identifier: CA456481522

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123709A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494395A>T , CM000669.2:g.92494395A>T	GRCh38
NC_000007.13:g.92123709A>T , CM000669.1:g.92123709A>T	GRCh37
NC_000007.12:g.91961645A>T	NCBI36
NG_008341.1:g.39137T>A
NG_008341.2:g.39137T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2928T>A (PEX1) MANE Select	ENSP00000248633.4:p.Gly976=
ENST00000248633.8:c.2928T>A (PEX1)	ENSP00000248633.4:p.Gly976=
ENST00000428214.5:c.2757T>A (PEX1)	ENSP00000394413.1:p.Gly919=
ENST00000438045.5:c.1962T>A (PEX1)	ENSP00000410438.1:p.Gly654=
ENST00000484913.5:n.2967T>A (PEX1)
ENST00000496420.5:n.2820T>A (PEX1)
NM_000466.2:c.2928T>A (PEX1)	NP_000457.1:p.Gly976=
NM_001282677.1:c.2757T>A (PEX1)	NP_001269606.1:p.Gly919=
NM_001282678.1:c.2304T>A (PEX1)	NP_001269607.1:p.Gly768=
XM_005250433.3:c.1179T>A (PEX1)	XP_005250490.1:p.Gly393=
XR_242246.3:n.3024T>A (PEX1)
XM_017012319.2:c.1179T>A (PEX1)	XP_016867808.1:p.Gly393=
XR_001744808.2:n.1955T>A (PEX1)
XR_001744843.2:n.5364A>T (GATAD1)
XR_242246.5:n.2975T>A (PEX1)
XR_927494.3:n.4215A>T (GATAD1)
XR_927503.3:n.4146A>T (GATAD1)
NM_000466.3:c.2928T>A (PEX1) MANE Select	NP_000457.1:p.Gly976=
NM_001282677.2:c.2757T>A (PEX1)	NP_001269606.1:p.Gly919=
NM_001282678.2:c.2304T>A (PEX1)	NP_001269607.1:p.Gly768=