Canonical Allele Identifier: CA456624232

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120769G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491455G>C , CM000669.2:g.92491455G>C	GRCh38
NC_000007.13:g.92120769G>C , CM000669.1:g.92120769G>C	GRCh37
NC_000007.12:g.91958705G>C	NCBI36
NG_008341.1:g.42077C>G
NG_008341.2:g.42077C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3255C>G (PEX1) MANE Select	ENSP00000248633.4:p.Val1085=
ENST00000248633.8:c.3255C>G (PEX1)	ENSP00000248633.4:p.Val1085=
ENST00000428214.5:c.3084C>G (PEX1)	ENSP00000394413.1:p.Val1028=
ENST00000438045.5:c.2289C>G (PEX1)	ENSP00000410438.1:p.Val763=
ENST00000484913.5:n.3294C>G (PEX1)
ENST00000496420.5:n.4310C>G (PEX1)
NM_000466.2:c.3255C>G (PEX1)	NP_000457.1:p.Val1085=
NM_001282677.1:c.3084C>G (PEX1)	NP_001269606.1:p.Val1028=
NM_001282678.1:c.2631C>G (PEX1)	NP_001269607.1:p.Val877=
XM_005250433.3:c.1506C>G (PEX1)	XP_005250490.1:p.Val502=
XR_242246.3:n.3351C>G (PEX1)
XM_017012319.2:c.1506C>G (PEX1)	XP_016867808.1:p.Val502=
XR_001744808.2:n.2282C>G (PEX1)
XR_001744842.2:n.2493G>C (GATAD1)
XR_001744843.2:n.2424G>C (GATAD1)
XR_002956472.1:n.2550G>C (GATAD1)
XR_002956473.1:n.2581G>C (GATAD1)
XR_002956474.1:n.2498G>C (GATAD1)
XR_242246.5:n.3302C>G (PEX1)
XR_927494.3:n.1275G>C (GATAD1)
XR_927500.3:n.1272G>C (GATAD1)
XR_927503.3:n.1206G>C (GATAD1)
NM_000466.3:c.3255C>G (PEX1) MANE Select	NP_000457.1:p.Val1085=
NM_001282677.2:c.3084C>G (PEX1)	NP_001269606.1:p.Val1028=
NM_001282678.2:c.2631C>G (PEX1)	NP_001269607.1:p.Val877=