Canonical Allele Identifier: CA368163957

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120689T>A (hg19) ; chr7:g.92491375T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491375T>A , CM000669.2:g.92491375T>A	GRCh38
NC_000007.13:g.92120689T>A , CM000669.1:g.92120689T>A	GRCh37
NC_000007.12:g.91958625T>A	NCBI36
NG_008341.1:g.42157A>T
NG_008341.2:g.42157A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3335A>T (PEX1) MANE Select	ENSP00000248633.4:p.Glu1112Val
ENST00000248633.8:c.3335A>T (PEX1)	ENSP00000248633.4:p.Glu1112Val
ENST00000428214.5:c.3164A>T (PEX1)	ENSP00000394413.1:p.Glu1055Val
ENST00000438045.5:c.2369A>T (PEX1)	ENSP00000410438.1:p.Glu790Val
ENST00000484913.5:n.3374A>T (PEX1)
ENST00000496420.5:n.4390A>T (PEX1)
NM_000466.2:c.3335A>T (PEX1)	NP_000457.1:p.Glu1112Val
NM_001282677.1:c.3164A>T (PEX1)	NP_001269606.1:p.Glu1055Val
NM_001282678.1:c.2711A>T (PEX1)	NP_001269607.1:p.Glu904Val
XM_005250433.3:c.1586A>T (PEX1)	XP_005250490.1:p.Glu529Val
XR_242246.3:n.3431A>T (PEX1)
XM_017012319.2:c.1586A>T (PEX1)	XP_016867808.1:p.Glu529Val
XR_001744808.2:n.2362A>T (PEX1)
XR_001744842.2:n.2413T>A (GATAD1)
XR_001744843.2:n.2344T>A (GATAD1)
XR_002956472.1:n.2470T>A (GATAD1)
XR_002956473.1:n.2501T>A (GATAD1)
XR_002956474.1:n.2418T>A (GATAD1)
XR_242246.5:n.3382A>T (PEX1)
XR_927494.3:n.1195T>A (GATAD1)
XR_927500.3:n.1192T>A (GATAD1)
XR_927503.3:n.1126T>A (GATAD1)
NM_000466.3:c.3335A>T (PEX1) MANE Select	NP_000457.1:p.Glu1112Val
NM_001282677.2:c.3164A>T (PEX1)	NP_001269606.1:p.Glu1055Val
NM_001282678.2:c.2711A>T (PEX1)	NP_001269607.1:p.Glu904Val