Canonical Allele Identifier: CA368161532

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92119111A>G (hg19) ; chr7:g.92489797A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489797A>G , CM000669.2:g.92489797A>G	GRCh38
NC_000007.13:g.92119111A>G , CM000669.1:g.92119111A>G	GRCh37
NC_000007.12:g.91957047A>G	NCBI36
NG_008341.1:g.43735T>C
NG_008341.2:g.43735T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3553T>C (PEX1) MANE Select	ENSP00000248633.4:p.Cys1185Arg
ENST00000248633.8:c.3553T>C (PEX1)	ENSP00000248633.4:p.Cys1185Arg
ENST00000428214.5:c.3382T>C (PEX1)	ENSP00000394413.1:p.Cys1128Arg
ENST00000438045.5:c.2587T>C (PEX1)	ENSP00000410438.1:p.Cys863Arg
ENST00000469417.1:n.450T>C (PEX1)
ENST00000484913.5:n.3592T>C (PEX1)
ENST00000496420.5:n.4608T>C (PEX1)
NM_000466.2:c.3553T>C (PEX1)	NP_000457.1:p.Cys1185Arg
NM_001282677.1:c.3382T>C (PEX1)	NP_001269606.1:p.Cys1128Arg
NM_001282678.1:c.2929T>C (PEX1)	NP_001269607.1:p.Cys977Arg
XM_005250433.3:c.1804T>C (PEX1)	XP_005250490.1:p.Cys602Arg
XR_242246.3:n.3649T>C (PEX1)
XR_927494.1:n.1036-1446A>G (GATAD1)
XR_927495.1:n.1036-289A>G (GATAD1)
XR_927496.1:n.1041-1446A>G (GATAD1)
XR_927497.1:n.1036-289A>G (GATAD1)
XR_927498.1:n.1124-1446A>G (GATAD1)
XR_927500.1:n.1033-1446A>G (GATAD1)
XR_927502.1:n.1033-289A>G (GATAD1)
XR_927503.1:n.967-1446A>G (GATAD1)
XM_017012319.2:c.1804T>C (PEX1)	XP_016867808.1:p.Cys602Arg
XR_001744808.2:n.2580T>C (PEX1)
XR_001744842.2:n.2281-1446A>G (GATAD1)
XR_001744843.2:n.2212-1446A>G (GATAD1)
XR_002956472.1:n.2281-289A>G (GATAD1)
XR_002956473.1:n.2369-1446A>G (GATAD1)
XR_002956474.1:n.2286-1446A>G (GATAD1)
XR_242246.5:n.3600T>C (PEX1)
XR_927494.3:n.1063-1446A>G (GATAD1)
XR_927500.3:n.1060-1446A>G (GATAD1)
XR_927503.3:n.994-1446A>G (GATAD1)
NM_000466.3:c.3553T>C (PEX1) MANE Select	NP_000457.1:p.Cys1185Arg
NM_001282677.2:c.3382T>C (PEX1)	NP_001269606.1:p.Cys1128Arg
NM_001282678.2:c.2929T>C (PEX1)	NP_001269607.1:p.Cys977Arg