Canonical Allele Identifier: CA368167139

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493130C>T , CM000669.2:g.92493130C>T	GRCh38
NC_000007.13:g.92122444C>T , CM000669.1:g.92122444C>T	GRCh37
NC_000007.12:g.91960380C>T	NCBI36
NG_008341.1:g.40402G>A
NG_008341.2:g.40402G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3031-1G>A (PEX1) MANE Select	NP_000457.1:n.3031-1G>A
ENST00000248633.9:c.3031-1G>A (PEX1) MANE Select	ENSP00000248633.4:n.3031-1G>A
NM_000466.2:c.3031-1G>A (PEX1)	NP_000457.1:n.3031-1G>A
NM_001282677.1:c.2860-1G>A (PEX1)	NP_001269606.1:n.2860-1G>A
NM_001282677.2:c.2860-1G>A (PEX1)	NP_001269606.1:n.2860-1G>A
NM_001282678.1:c.2407-1G>A (PEX1)	NP_001269607.1:n.2407-1G>A
NM_001282678.2:c.2407-1G>A (PEX1)	NP_001269607.1:n.2407-1G>A
ENST00000248633.8:c.3031-1G>A (PEX1)	ENSP00000248633.4:n.3031-1G>A
ENST00000428214.5:c.2860-1G>A (PEX1)	ENSP00000394413.1:n.2860-1G>A
ENST00000438045.5:c.2065-1G>A (PEX1)	ENSP00000410438.1:n.2065-1G>A
ENST00000484913.5:n.3070-1G>A (PEX1)
ENST00000496420.5:n.4085G>A (PEX1)
XM_005250433.3:c.1282-1G>A (PEX1)	XP_005250490.1:n.1282-1G>A
XM_017012319.2:c.1282-1G>A (PEX1)	XP_016867808.1:n.1282-1G>A
XR_001744808.2:n.2058-1G>A (PEX1)
XR_001744842.2:n.4168C>T (GATAD1)
XR_001744843.2:n.4099C>T (GATAD1)
XR_002956472.1:n.4225C>T (GATAD1)
XR_002956473.1:n.4256C>T (GATAD1)
XR_002956474.1:n.4173C>T (GATAD1)
XR_242246.3:n.3127-1G>A (PEX1)
XR_242246.5:n.3078-1G>A (PEX1)
XR_927494.3:n.2950C>T (GATAD1)
XR_927500.3:n.2947C>T (GATAD1)
XR_927503.3:n.2881C>T (GATAD1)