Canonical Allele Identifier: CA368163545

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120636A>C (hg19) ; chr7:g.92491322A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491322A>C , CM000669.2:g.92491322A>C	GRCh38
NC_000007.13:g.92120636A>C , CM000669.1:g.92120636A>C	GRCh37
NC_000007.12:g.91958572A>C	NCBI36
NG_008341.1:g.42210T>G
NG_008341.2:g.42210T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3388T>G (PEX1) MANE Select	ENSP00000248633.4:p.Phe1130Val
ENST00000248633.8:c.3388T>G (PEX1)	ENSP00000248633.4:p.Phe1130Val
ENST00000428214.5:c.3217T>G (PEX1)	ENSP00000394413.1:p.Phe1073Val
ENST00000438045.5:c.2422T>G (PEX1)	ENSP00000410438.1:p.Phe808Val
ENST00000484913.5:n.3427T>G (PEX1)
ENST00000496420.5:n.4443T>G (PEX1)
NM_000466.2:c.3388T>G (PEX1)	NP_000457.1:p.Phe1130Val
NM_001282677.1:c.3217T>G (PEX1)	NP_001269606.1:p.Phe1073Val
NM_001282678.1:c.2764T>G (PEX1)	NP_001269607.1:p.Phe922Val
XM_005250433.3:c.1639T>G (PEX1)	XP_005250490.1:p.Phe547Val
XR_242246.3:n.3484T>G (PEX1)
XR_927494.1:n.1115A>C (GATAD1)
XR_927496.1:n.1120A>C (GATAD1)
XR_927497.1:n.1172A>C (GATAD1)
XR_927498.1:n.1203A>C (GATAD1)
XR_927500.1:n.1112A>C (GATAD1)
XR_927503.1:n.1046A>C (GATAD1)
XM_017012319.2:c.1639T>G (PEX1)	XP_016867808.1:p.Phe547Val
XR_001744808.2:n.2415T>G (PEX1)
XR_001744842.2:n.2360A>C (GATAD1)
XR_001744843.2:n.2291A>C (GATAD1)
XR_002956472.1:n.2417A>C (GATAD1)
XR_002956473.1:n.2448A>C (GATAD1)
XR_002956474.1:n.2365A>C (GATAD1)
XR_242246.5:n.3435T>G (PEX1)
XR_927494.3:n.1142A>C (GATAD1)
XR_927500.3:n.1139A>C (GATAD1)
XR_927503.3:n.1073A>C (GATAD1)
NM_000466.3:c.3388T>G (PEX1) MANE Select	NP_000457.1:p.Phe1130Val
NM_001282677.2:c.3217T>G (PEX1)	NP_001269606.1:p.Phe1073Val
NM_001282678.2:c.2764T>G (PEX1)	NP_001269607.1:p.Phe922Val