Canonical Allele Identifier: CA456481498

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123691A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494377A>G , CM000669.2:g.92494377A>G	GRCh38
NC_000007.13:g.92123691A>G , CM000669.1:g.92123691A>G	GRCh37
NC_000007.12:g.91961627A>G	NCBI36
NG_008341.1:g.39155T>C
NG_008341.2:g.39155T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2946T>C (PEX1) MANE Select	ENSP00000248633.4:p.Ala982=
ENST00000248633.8:c.2946T>C (PEX1)	ENSP00000248633.4:p.Ala982=
ENST00000428214.5:c.2775T>C (PEX1)	ENSP00000394413.1:p.Ala925=
ENST00000438045.5:c.1980T>C (PEX1)	ENSP00000410438.1:p.Ala660=
ENST00000484913.5:n.2985T>C (PEX1)
ENST00000496420.5:n.2838T>C (PEX1)
NM_000466.2:c.2946T>C (PEX1)	NP_000457.1:p.Ala982=
NM_001282677.1:c.2775T>C (PEX1)	NP_001269606.1:p.Ala925=
NM_001282678.1:c.2322T>C (PEX1)	NP_001269607.1:p.Ala774=
XM_005250433.3:c.1197T>C (PEX1)	XP_005250490.1:p.Ala399=
XR_242246.3:n.3042T>C (PEX1)
XM_017012319.2:c.1197T>C (PEX1)	XP_016867808.1:p.Ala399=
XR_001744808.2:n.1973T>C (PEX1)
XR_001744843.2:n.5346A>G (GATAD1)
XR_242246.5:n.2993T>C (PEX1)
XR_927494.3:n.4197A>G (GATAD1)
XR_927503.3:n.4128A>G (GATAD1)
NM_000466.3:c.2946T>C (PEX1) MANE Select	NP_000457.1:p.Ala982=
NM_001282677.2:c.2775T>C (PEX1)	NP_001269606.1:p.Ala925=
NM_001282678.2:c.2322T>C (PEX1)	NP_001269607.1:p.Ala774=