Canonical Allele Identifier: CA368163370

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491301C>A , CM000669.2:g.92491301C>A	GRCh38
NC_000007.13:g.92120615C>A , CM000669.1:g.92120615C>A	GRCh37
NC_000007.12:g.91958551C>A	NCBI36
NG_008341.1:g.42231G>T
NG_008341.2:g.42231G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3409G>T (PEX1) MANE Select	NP_000457.1:p.Glu1137Ter
ENST00000248633.9:c.3409G>T (PEX1) MANE Select	ENSP00000248633.4:p.Glu1137Ter
NM_000466.2:c.3409G>T (PEX1)	NP_000457.1:p.Glu1137Ter
NM_001282677.1:c.3238G>T (PEX1)	NP_001269606.1:p.Glu1080Ter
NM_001282677.2:c.3238G>T (PEX1)	NP_001269606.1:p.Glu1080Ter
NM_001282678.1:c.2785G>T (PEX1)	NP_001269607.1:p.Glu929Ter
NM_001282678.2:c.2785G>T (PEX1)	NP_001269607.1:p.Glu929Ter
ENST00000248633.8:c.3409G>T (PEX1)	ENSP00000248633.4:p.Glu1137Ter
ENST00000428214.5:c.3238G>T (PEX1)	ENSP00000394413.1:p.Glu1080Ter
ENST00000438045.5:c.2443G>T (PEX1)	ENSP00000410438.1:p.Glu815Ter
ENST00000484913.5:n.3448G>T (PEX1)
ENST00000496420.5:n.4464G>T (PEX1)
XM_005250433.3:c.1660G>T (PEX1)	XP_005250490.1:p.Glu554Ter
XM_017012319.2:c.1660G>T (PEX1)	XP_016867808.1:p.Glu554Ter
XR_001744808.2:n.2436G>T (PEX1)
XR_001744842.2:n.2339C>A (GATAD1)
XR_001744843.2:n.2270C>A (GATAD1)
XR_002956472.1:n.2396C>A (GATAD1)
XR_002956473.1:n.2427C>A (GATAD1)
XR_002956474.1:n.2344C>A (GATAD1)
XR_242246.3:n.3505G>T (PEX1)
XR_242246.5:n.3456G>T (PEX1)
XR_927494.1:n.1094C>A (GATAD1)
XR_927494.3:n.1121C>A (GATAD1)
XR_927496.1:n.1099C>A (GATAD1)
XR_927497.1:n.1151C>A (GATAD1)
XR_927498.1:n.1182C>A (GATAD1)
XR_927500.1:n.1091C>A (GATAD1)
XR_927500.3:n.1118C>A (GATAD1)
XR_927503.1:n.1025C>A (GATAD1)
XR_927503.3:n.1052C>A (GATAD1)