Canonical Allele Identifier: CA368163459

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120627A>T (hg19) ; chr7:g.92491313A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491313A>T , CM000669.2:g.92491313A>T	GRCh38
NC_000007.13:g.92120627A>T , CM000669.1:g.92120627A>T	GRCh37
NC_000007.12:g.91958563A>T	NCBI36
NG_008341.1:g.42219T>A
NG_008341.2:g.42219T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3397T>A (PEX1) MANE Select	ENSP00000248633.4:p.Ser1133Thr
ENST00000248633.8:c.3397T>A (PEX1)	ENSP00000248633.4:p.Ser1133Thr
ENST00000428214.5:c.3226T>A (PEX1)	ENSP00000394413.1:p.Ser1076Thr
ENST00000438045.5:c.2431T>A (PEX1)	ENSP00000410438.1:p.Ser811Thr
ENST00000484913.5:n.3436T>A (PEX1)
ENST00000496420.5:n.4452T>A (PEX1)
NM_000466.2:c.3397T>A (PEX1)	NP_000457.1:p.Ser1133Thr
NM_001282677.1:c.3226T>A (PEX1)	NP_001269606.1:p.Ser1076Thr
NM_001282678.1:c.2773T>A (PEX1)	NP_001269607.1:p.Ser925Thr
XM_005250433.3:c.1648T>A (PEX1)	XP_005250490.1:p.Ser550Thr
XR_242246.3:n.3493T>A (PEX1)
XR_927494.1:n.1106A>T (GATAD1)
XR_927496.1:n.1111A>T (GATAD1)
XR_927497.1:n.1163A>T (GATAD1)
XR_927498.1:n.1194A>T (GATAD1)
XR_927500.1:n.1103A>T (GATAD1)
XR_927503.1:n.1037A>T (GATAD1)
XM_017012319.2:c.1648T>A (PEX1)	XP_016867808.1:p.Ser550Thr
XR_001744808.2:n.2424T>A (PEX1)
XR_001744842.2:n.2351A>T (GATAD1)
XR_001744843.2:n.2282A>T (GATAD1)
XR_002956472.1:n.2408A>T (GATAD1)
XR_002956473.1:n.2439A>T (GATAD1)
XR_002956474.1:n.2356A>T (GATAD1)
XR_242246.5:n.3444T>A (PEX1)
XR_927494.3:n.1133A>T (GATAD1)
XR_927500.3:n.1130A>T (GATAD1)
XR_927503.3:n.1064A>T (GATAD1)
NM_000466.3:c.3397T>A (PEX1) MANE Select	NP_000457.1:p.Ser1133Thr
NM_001282677.2:c.3226T>A (PEX1)	NP_001269606.1:p.Ser1076Thr
NM_001282678.2:c.2773T>A (PEX1)	NP_001269607.1:p.Ser925Thr