Canonical Allele Identifier: CA2683716789

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489623-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489623G>C , CM000669.2:g.92489623G>C	GRCh38
NC_000007.13:g.92118937G>C , CM000669.1:g.92118937G>C	GRCh37
NC_000007.12:g.91956873G>C	NCBI36
NG_008341.1:g.43909C>G
NG_008341.2:g.43909C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3636+91C>G (PEX1) MANE Select	ENSP00000248633.4:n.3636+91C>G
ENST00000248633.8:c.3636+91C>G (PEX1)	ENSP00000248633.4:n.3636+91C>G
ENST00000428214.5:c.3465+91C>G (PEX1)	ENSP00000394413.1:n.3465+91C>G
ENST00000438045.5:c.2670+91C>G (PEX1)	ENSP00000410438.1:n.2670+91C>G
ENST00000469417.1:n.533+91C>G (PEX1)
ENST00000477342.1:n.172C>G (PEX1)
ENST00000484913.5:n.3675+91C>G (PEX1)
ENST00000496420.5:n.4686+96C>G (PEX1)
NM_000466.2:c.3636+91C>G (PEX1)	NP_000457.1:n.3636+91C>G
NM_001282677.1:c.3465+91C>G (PEX1)	NP_001269606.1:n.3465+91C>G
NM_001282678.1:c.3012+91C>G (PEX1)	NP_001269607.1:n.3012+91C>G
XM_005250433.3:c.1887+91C>G (PEX1)	XP_005250490.1:n.1887+91C>G
XR_242246.3:n.3727+96C>G (PEX1)
XR_927494.1:n.1036-1620G>C (GATAD1)
XR_927495.1:n.1036-463G>C (GATAD1)
XR_927496.1:n.1041-1620G>C (GATAD1)
XR_927497.1:n.1036-463G>C (GATAD1)
XR_927498.1:n.1124-1620G>C (GATAD1)
XR_927500.1:n.1033-1620G>C (GATAD1)
XR_927502.1:n.1033-463G>C (GATAD1)
XR_927503.1:n.967-1620G>C (GATAD1)
XM_017012319.2:c.1887+91C>G (PEX1)	XP_016867808.1:n.1887+91C>G
XR_001744808.2:n.2658+96C>G (PEX1)
XR_001744842.2:n.2281-1620G>C (GATAD1)
XR_001744843.2:n.2212-1620G>C (GATAD1)
XR_002956472.1:n.2281-463G>C (GATAD1)
XR_002956473.1:n.2369-1620G>C (GATAD1)
XR_002956474.1:n.2286-1620G>C (GATAD1)
XR_242246.5:n.3678+96C>G (PEX1)
XR_927494.3:n.1063-1620G>C (GATAD1)
XR_927500.3:n.1060-1620G>C (GATAD1)
XR_927503.3:n.994-1620G>C (GATAD1)
NM_000466.3:c.3636+91C>G (PEX1) MANE Select	NP_000457.1:n.3636+91C>G
NM_001282677.2:c.3465+91C>G (PEX1)	NP_001269606.1:n.3465+91C>G
NM_001282678.2:c.3012+91C>G (PEX1)	NP_001269607.1:n.3012+91C>G