Canonical Allele Identifier: CA368163401

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791298766
• MyVariant Identifiers: chr7:g.92120621C>T (hg19) ; chr7:g.92491307C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491307C>T , CM000669.2:g.92491307C>T	GRCh38
NC_000007.13:g.92120621C>T , CM000669.1:g.92120621C>T	GRCh37
NC_000007.12:g.91958557C>T	NCBI36
NG_008341.1:g.42225G>A
NG_008341.2:g.42225G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3403G>A (PEX1) MANE Select	ENSP00000248633.4:p.Glu1135Lys
ENST00000248633.8:c.3403G>A (PEX1)	ENSP00000248633.4:p.Glu1135Lys
ENST00000428214.5:c.3232G>A (PEX1)	ENSP00000394413.1:p.Glu1078Lys
ENST00000438045.5:c.2437G>A (PEX1)	ENSP00000410438.1:p.Glu813Lys
ENST00000484913.5:n.3442G>A (PEX1)
ENST00000496420.5:n.4458G>A (PEX1)
NM_000466.2:c.3403G>A (PEX1)	NP_000457.1:p.Glu1135Lys
NM_001282677.1:c.3232G>A (PEX1)	NP_001269606.1:p.Glu1078Lys
NM_001282678.1:c.2779G>A (PEX1)	NP_001269607.1:p.Glu927Lys
XM_005250433.3:c.1654G>A (PEX1)	XP_005250490.1:p.Glu552Lys
XR_242246.3:n.3499G>A (PEX1)
XR_927494.1:n.1100C>T (GATAD1)
XR_927496.1:n.1105C>T (GATAD1)
XR_927497.1:n.1157C>T (GATAD1)
XR_927498.1:n.1188C>T (GATAD1)
XR_927500.1:n.1097C>T (GATAD1)
XR_927503.1:n.1031C>T (GATAD1)
XM_017012319.2:c.1654G>A (PEX1)	XP_016867808.1:p.Glu552Lys
XR_001744808.2:n.2430G>A (PEX1)
XR_001744842.2:n.2345C>T (GATAD1)
XR_001744843.2:n.2276C>T (GATAD1)
XR_002956472.1:n.2402C>T (GATAD1)
XR_002956473.1:n.2433C>T (GATAD1)
XR_002956474.1:n.2350C>T (GATAD1)
XR_242246.5:n.3450G>A (PEX1)
XR_927494.3:n.1127C>T (GATAD1)
XR_927500.3:n.1124C>T (GATAD1)
XR_927503.3:n.1058C>T (GATAD1)
NM_000466.3:c.3403G>A (PEX1) MANE Select	NP_000457.1:p.Glu1135Lys
NM_001282677.2:c.3232G>A (PEX1)	NP_001269606.1:p.Glu1078Lys
NM_001282678.2:c.2779G>A (PEX1)	NP_001269607.1:p.Glu927Lys