Canonical Allele Identifier: CA368160391

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92118727G>C (hg19) ; chr7:g.92489413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489413G>C , CM000669.2:g.92489413G>C	GRCh38
NC_000007.13:g.92118727G>C , CM000669.1:g.92118727G>C	GRCh37
NC_000007.12:g.91956663G>C	NCBI36
NG_008341.1:g.44119C>G
NG_008341.2:g.44119C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3647C>G (PEX1) MANE Select	ENSP00000248633.4:p.Ser1216Cys
ENST00000248633.8:c.3647C>G (PEX1)	ENSP00000248633.4:p.Ser1216Cys
ENST00000428214.5:c.3476C>G (PEX1)	ENSP00000394413.1:p.Ser1159Cys
ENST00000438045.5:c.2681C>G (PEX1)	ENSP00000410438.1:p.Ser894Cys
ENST00000469417.1:n.544C>G (PEX1)
ENST00000477342.1:n.382C>G (PEX1)
ENST00000484913.5:n.3686C>G (PEX1)
ENST00000496420.5:n.4697C>G (PEX1)
NM_000466.2:c.3647C>G (PEX1)	NP_000457.1:p.Ser1216Cys
NM_001282677.1:c.3476C>G (PEX1)	NP_001269606.1:p.Ser1159Cys
NM_001282678.1:c.3023C>G (PEX1)	NP_001269607.1:p.Ser1008Cys
XM_005250433.3:c.1898C>G (PEX1)	XP_005250490.1:p.Ser633Cys
XR_242246.3:n.3738C>G (PEX1)
XR_927494.1:n.1036-1830G>C (GATAD1)
XR_927495.1:n.1036-673G>C (GATAD1)
XR_927496.1:n.1041-1830G>C (GATAD1)
XR_927497.1:n.1036-673G>C (GATAD1)
XR_927498.1:n.1124-1830G>C (GATAD1)
XR_927500.1:n.1033-1830G>C (GATAD1)
XR_927502.1:n.1033-673G>C (GATAD1)
XR_927503.1:n.967-1830G>C (GATAD1)
XM_017012319.2:c.1898C>G (PEX1)	XP_016867808.1:p.Ser633Cys
XR_001744808.2:n.2669C>G (PEX1)
XR_001744842.2:n.2281-1830G>C (GATAD1)
XR_001744843.2:n.2212-1830G>C (GATAD1)
XR_002956472.1:n.2281-673G>C (GATAD1)
XR_002956473.1:n.2369-1830G>C (GATAD1)
XR_002956474.1:n.2286-1830G>C (GATAD1)
XR_242246.5:n.3689C>G (PEX1)
XR_927494.3:n.1063-1830G>C (GATAD1)
XR_927500.3:n.1060-1830G>C (GATAD1)
XR_927503.3:n.994-1830G>C (GATAD1)
NM_000466.3:c.3647C>G (PEX1) MANE Select	NP_000457.1:p.Ser1216Cys
NM_001282677.2:c.3476C>G (PEX1)	NP_001269606.1:p.Ser1159Cys
NM_001282678.2:c.3023C>G (PEX1)	NP_001269607.1:p.Ser1008Cys