Canonical Allele Identifier: CA368163506

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120632C>G (hg19) ; chr7:g.92491318C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491318C>G , CM000669.2:g.92491318C>G	GRCh38
NC_000007.13:g.92120632C>G , CM000669.1:g.92120632C>G	GRCh37
NC_000007.12:g.91958568C>G	NCBI36
NG_008341.1:g.42214G>C
NG_008341.2:g.42214G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3392G>C (PEX1) MANE Select	ENSP00000248633.4:p.Gly1131Ala
ENST00000248633.8:c.3392G>C (PEX1)	ENSP00000248633.4:p.Gly1131Ala
ENST00000428214.5:c.3221G>C (PEX1)	ENSP00000394413.1:p.Gly1074Ala
ENST00000438045.5:c.2426G>C (PEX1)	ENSP00000410438.1:p.Gly809Ala
ENST00000484913.5:n.3431G>C (PEX1)
ENST00000496420.5:n.4447G>C (PEX1)
NM_000466.2:c.3392G>C (PEX1)	NP_000457.1:p.Gly1131Ala
NM_001282677.1:c.3221G>C (PEX1)	NP_001269606.1:p.Gly1074Ala
NM_001282678.1:c.2768G>C (PEX1)	NP_001269607.1:p.Gly923Ala
XM_005250433.3:c.1643G>C (PEX1)	XP_005250490.1:p.Gly548Ala
XR_242246.3:n.3488G>C (PEX1)
XR_927494.1:n.1111C>G (GATAD1)
XR_927496.1:n.1116C>G (GATAD1)
XR_927497.1:n.1168C>G (GATAD1)
XR_927498.1:n.1199C>G (GATAD1)
XR_927500.1:n.1108C>G (GATAD1)
XR_927503.1:n.1042C>G (GATAD1)
XM_017012319.2:c.1643G>C (PEX1)	XP_016867808.1:p.Gly548Ala
XR_001744808.2:n.2419G>C (PEX1)
XR_001744842.2:n.2356C>G (GATAD1)
XR_001744843.2:n.2287C>G (GATAD1)
XR_002956472.1:n.2413C>G (GATAD1)
XR_002956473.1:n.2444C>G (GATAD1)
XR_002956474.1:n.2361C>G (GATAD1)
XR_242246.5:n.3439G>C (PEX1)
XR_927494.3:n.1138C>G (GATAD1)
XR_927500.3:n.1135C>G (GATAD1)
XR_927503.3:n.1069C>G (GATAD1)
NM_000466.3:c.3392G>C (PEX1) MANE Select	NP_000457.1:p.Gly1131Ala
NM_001282677.2:c.3221G>C (PEX1)	NP_001269606.1:p.Gly1074Ala
NM_001282678.2:c.2768G>C (PEX1)	NP_001269607.1:p.Gly923Ala