Canonical Allele Identifier: CA368159266

Gene: PEX1 GATAD1

Linked Data

• COSMIC: COSM1187357
• MyVariant Identifiers: chr7:g.92118632C>G (hg19) ; chr7:g.92489318C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489318C>G , CM000669.2:g.92489318C>G	GRCh38
NC_000007.13:g.92118632C>G , CM000669.1:g.92118632C>G	GRCh37
NC_000007.12:g.91956568C>G	NCBI36
NG_008341.1:g.44214G>C
NG_008341.2:g.44214G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3742G>C (PEX1) MANE Select	ENSP00000248633.4:p.Asp1248His
ENST00000248633.8:c.3742G>C (PEX1)	ENSP00000248633.4:p.Asp1248His
ENST00000428214.5:c.3571G>C (PEX1)	ENSP00000394413.1:p.Asp1191His
ENST00000438045.5:c.2776G>C (PEX1)	ENSP00000410438.1:p.Asp926His
ENST00000477342.1:n.477G>C (PEX1)
ENST00000484913.5:n.3781G>C (PEX1)
ENST00000496420.5:n.4792G>C (PEX1)
NM_000466.2:c.3742G>C (PEX1)	NP_000457.1:p.Asp1248His
NM_001282677.1:c.3571G>C (PEX1)	NP_001269606.1:p.Asp1191His
NM_001282678.1:c.3118G>C (PEX1)	NP_001269607.1:p.Asp1040His
XM_005250433.3:c.1993G>C (PEX1)	XP_005250490.1:p.Asp665His
XR_242246.3:n.3833G>C (PEX1)
XR_927494.1:n.1036-1925C>G (GATAD1)
XR_927495.1:n.1036-768C>G (GATAD1)
XR_927496.1:n.1041-1925C>G (GATAD1)
XR_927497.1:n.1036-768C>G (GATAD1)
XR_927498.1:n.1124-1925C>G (GATAD1)
XR_927500.1:n.1033-1925C>G (GATAD1)
XR_927502.1:n.1033-768C>G (GATAD1)
XR_927503.1:n.967-1925C>G (GATAD1)
XM_017012319.2:c.1993G>C (PEX1)	XP_016867808.1:p.Asp665His
XR_001744808.2:n.2764G>C (PEX1)
XR_001744842.2:n.2281-1925C>G (GATAD1)
XR_001744843.2:n.2212-1925C>G (GATAD1)
XR_002956472.1:n.2281-768C>G (GATAD1)
XR_002956473.1:n.2369-1925C>G (GATAD1)
XR_002956474.1:n.2286-1925C>G (GATAD1)
XR_242246.5:n.3784G>C (PEX1)
XR_927494.3:n.1063-1925C>G (GATAD1)
XR_927500.3:n.1060-1925C>G (GATAD1)
XR_927503.3:n.994-1925C>G (GATAD1)
NM_000466.3:c.3742G>C (PEX1) MANE Select	NP_000457.1:p.Asp1248His
NM_001282677.2:c.3571G>C (PEX1)	NP_001269606.1:p.Asp1191His
NM_001282678.2:c.3118G>C (PEX1)	NP_001269607.1:p.Asp1040His