Canonical Allele Identifier: CA2578937842

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494459A>G , CM000669.2:g.92494459A>G	GRCh38
NC_000007.13:g.92123773A>G , CM000669.1:g.92123773A>G	GRCh37
NC_000007.12:g.91961709A>G	NCBI36
NG_008341.1:g.39073T>C
NG_008341.2:g.39073T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2926+28T>C (PEX1) MANE Select	ENSP00000248633.4:n.2926+28T>C
ENST00000248633.8:c.2926+28T>C (PEX1)	ENSP00000248633.4:n.2926+28T>C
ENST00000428214.5:c.2755+28T>C (PEX1)	ENSP00000394413.1:n.2755+28T>C
ENST00000438045.5:c.1960+28T>C (PEX1)	ENSP00000410438.1:n.1960+28T>C
ENST00000484913.5:n.2965+28T>C (PEX1)
ENST00000496420.5:n.2818+28T>C (PEX1)
NM_000466.2:c.2926+28T>C (PEX1)	NP_000457.1:n.2926+28T>C
NM_001282677.1:c.2755+28T>C (PEX1)	NP_001269606.1:n.2755+28T>C
NM_001282678.1:c.2302+28T>C (PEX1)	NP_001269607.1:n.2302+28T>C
XM_005250433.3:c.1177+28T>C (PEX1)	XP_005250490.1:n.1177+28T>C
XR_242246.3:n.3022+28T>C (PEX1)
XM_017012319.2:c.1177+28T>C (PEX1)	XP_016867808.1:n.1177+28T>C
XR_001744808.2:n.1953+28T>C (PEX1)
XR_001744843.2:n.5428A>G (GATAD1)
XR_242246.5:n.2973+28T>C (PEX1)
XR_927494.3:n.4279A>G (GATAD1)
XR_927503.3:n.4210A>G (GATAD1)
NM_000466.3:c.2926+28T>C (PEX1) MANE Select	NP_000457.1:n.2926+28T>C
NM_001282677.2:c.2755+28T>C (PEX1)	NP_001269606.1:n.2755+28T>C
NM_001282678.2:c.2302+28T>C (PEX1)	NP_001269607.1:n.2302+28T>C