Canonical Allele Identifier: CA368160833

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92119042G>C (hg19) ; chr7:g.92489728G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489728G>C , CM000669.2:g.92489728G>C	GRCh38
NC_000007.13:g.92119042G>C , CM000669.1:g.92119042G>C	GRCh37
NC_000007.12:g.91956978G>C	NCBI36
NG_008341.1:g.43804C>G
NG_008341.2:g.43804C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3622C>G (PEX1) MANE Select	ENSP00000248633.4:p.Arg1208Gly
ENST00000248633.8:c.3622C>G (PEX1)	ENSP00000248633.4:p.Arg1208Gly
ENST00000428214.5:c.3451C>G (PEX1)	ENSP00000394413.1:p.Arg1151Gly
ENST00000438045.5:c.2656C>G (PEX1)	ENSP00000410438.1:p.Arg886Gly
ENST00000469417.1:n.519C>G (PEX1)
ENST00000477342.1:n.67C>G (PEX1)
ENST00000484913.5:n.3661C>G (PEX1)
ENST00000496420.5:n.4677C>G (PEX1)
NM_000466.2:c.3622C>G (PEX1)	NP_000457.1:p.Arg1208Gly
NM_001282677.1:c.3451C>G (PEX1)	NP_001269606.1:p.Arg1151Gly
NM_001282678.1:c.2998C>G (PEX1)	NP_001269607.1:p.Arg1000Gly
XM_005250433.3:c.1873C>G (PEX1)	XP_005250490.1:p.Arg625Gly
XR_242246.3:n.3718C>G (PEX1)
XR_927494.1:n.1036-1515G>C (GATAD1)
XR_927495.1:n.1036-358G>C (GATAD1)
XR_927496.1:n.1041-1515G>C (GATAD1)
XR_927497.1:n.1036-358G>C (GATAD1)
XR_927498.1:n.1124-1515G>C (GATAD1)
XR_927500.1:n.1033-1515G>C (GATAD1)
XR_927502.1:n.1033-358G>C (GATAD1)
XR_927503.1:n.967-1515G>C (GATAD1)
XM_017012319.2:c.1873C>G (PEX1)	XP_016867808.1:p.Arg625Gly
XR_001744808.2:n.2649C>G (PEX1)
XR_001744842.2:n.2281-1515G>C (GATAD1)
XR_001744843.2:n.2212-1515G>C (GATAD1)
XR_002956472.1:n.2281-358G>C (GATAD1)
XR_002956473.1:n.2369-1515G>C (GATAD1)
XR_002956474.1:n.2286-1515G>C (GATAD1)
XR_242246.5:n.3669C>G (PEX1)
XR_927494.3:n.1063-1515G>C (GATAD1)
XR_927500.3:n.1060-1515G>C (GATAD1)
XR_927503.3:n.994-1515G>C (GATAD1)
NM_000466.3:c.3622C>G (PEX1) MANE Select	NP_000457.1:p.Arg1208Gly
NM_001282677.2:c.3451C>G (PEX1)	NP_001269606.1:p.Arg1151Gly
NM_001282678.2:c.2998C>G (PEX1)	NP_001269607.1:p.Arg1000Gly