Canonical Allele Identifier: CA456623786

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120619T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491305T>C , CM000669.2:g.92491305T>C	GRCh38
NC_000007.13:g.92120619T>C , CM000669.1:g.92120619T>C	GRCh37
NC_000007.12:g.91958555T>C	NCBI36
NG_008341.1:g.42227A>G
NG_008341.2:g.42227A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3405A>G (PEX1) MANE Select	ENSP00000248633.4:p.Glu1135=
ENST00000248633.8:c.3405A>G (PEX1)	ENSP00000248633.4:p.Glu1135=
ENST00000428214.5:c.3234A>G (PEX1)	ENSP00000394413.1:p.Glu1078=
ENST00000438045.5:c.2439A>G (PEX1)	ENSP00000410438.1:p.Glu813=
ENST00000484913.5:n.3444A>G (PEX1)
ENST00000496420.5:n.4460A>G (PEX1)
NM_000466.2:c.3405A>G (PEX1)	NP_000457.1:p.Glu1135=
NM_001282677.1:c.3234A>G (PEX1)	NP_001269606.1:p.Glu1078=
NM_001282678.1:c.2781A>G (PEX1)	NP_001269607.1:p.Glu927=
XM_005250433.3:c.1656A>G (PEX1)	XP_005250490.1:p.Glu552=
XR_242246.3:n.3501A>G (PEX1)
XR_927494.1:n.1098T>C (GATAD1)
XR_927496.1:n.1103T>C (GATAD1)
XR_927497.1:n.1155T>C (GATAD1)
XR_927498.1:n.1186T>C (GATAD1)
XR_927500.1:n.1095T>C (GATAD1)
XR_927503.1:n.1029T>C (GATAD1)
XM_017012319.2:c.1656A>G (PEX1)	XP_016867808.1:p.Glu552=
XR_001744808.2:n.2432A>G (PEX1)
XR_001744842.2:n.2343T>C (GATAD1)
XR_001744843.2:n.2274T>C (GATAD1)
XR_002956472.1:n.2400T>C (GATAD1)
XR_002956473.1:n.2431T>C (GATAD1)
XR_002956474.1:n.2348T>C (GATAD1)
XR_242246.5:n.3452A>G (PEX1)
XR_927494.3:n.1125T>C (GATAD1)
XR_927500.3:n.1122T>C (GATAD1)
XR_927503.3:n.1056T>C (GATAD1)
NM_000466.3:c.3405A>G (PEX1) MANE Select	NP_000457.1:p.Glu1135=
NM_001282677.2:c.3234A>G (PEX1)	NP_001269606.1:p.Glu1078=
NM_001282678.2:c.2781A>G (PEX1)	NP_001269607.1:p.Glu927=