Canonical Allele Identifier: CA368161658

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92119131C>A (hg19) ; chr7:g.92489817C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489817C>A , CM000669.2:g.92489817C>A	GRCh38
NC_000007.13:g.92119131C>A , CM000669.1:g.92119131C>A	GRCh37
NC_000007.12:g.91957067C>A	NCBI36
NG_008341.1:g.43715G>T
NG_008341.2:g.43715G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3533G>T (PEX1) MANE Select	ENSP00000248633.4:p.Arg1178Met
ENST00000248633.8:c.3533G>T (PEX1)	ENSP00000248633.4:p.Arg1178Met
ENST00000428214.5:c.3362G>T (PEX1)	ENSP00000394413.1:p.Arg1121Met
ENST00000438045.5:c.2567G>T (PEX1)	ENSP00000410438.1:p.Arg856Met
ENST00000469417.1:n.430G>T (PEX1)
ENST00000484913.5:n.3572G>T (PEX1)
ENST00000496420.5:n.4588G>T (PEX1)
NM_000466.2:c.3533G>T (PEX1)	NP_000457.1:p.Arg1178Met
NM_001282677.1:c.3362G>T (PEX1)	NP_001269606.1:p.Arg1121Met
NM_001282678.1:c.2909G>T (PEX1)	NP_001269607.1:p.Arg970Met
XM_005250433.3:c.1784G>T (PEX1)	XP_005250490.1:p.Arg595Met
XR_242246.3:n.3629G>T (PEX1)
XR_927494.1:n.1036-1426C>A (GATAD1)
XR_927495.1:n.1036-269C>A (GATAD1)
XR_927496.1:n.1041-1426C>A (GATAD1)
XR_927497.1:n.1036-269C>A (GATAD1)
XR_927498.1:n.1124-1426C>A (GATAD1)
XR_927500.1:n.1033-1426C>A (GATAD1)
XR_927502.1:n.1033-269C>A (GATAD1)
XR_927503.1:n.967-1426C>A (GATAD1)
XM_017012319.2:c.1784G>T (PEX1)	XP_016867808.1:p.Arg595Met
XR_001744808.2:n.2560G>T (PEX1)
XR_001744842.2:n.2281-1426C>A (GATAD1)
XR_001744843.2:n.2212-1426C>A (GATAD1)
XR_002956472.1:n.2281-269C>A (GATAD1)
XR_002956473.1:n.2369-1426C>A (GATAD1)
XR_002956474.1:n.2286-1426C>A (GATAD1)
XR_242246.5:n.3580G>T (PEX1)
XR_927494.3:n.1063-1426C>A (GATAD1)
XR_927500.3:n.1060-1426C>A (GATAD1)
XR_927503.3:n.994-1426C>A (GATAD1)
NM_000466.3:c.3533G>T (PEX1) MANE Select	NP_000457.1:p.Arg1178Met
NM_001282677.2:c.3362G>T (PEX1)	NP_001269606.1:p.Arg1121Met
NM_001282678.2:c.2909G>T (PEX1)	NP_001269607.1:p.Arg970Met