Canonical Allele Identifier: CA368164012

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120704G>A (hg19) ; chr7:g.92491390G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491390G>A , CM000669.2:g.92491390G>A	GRCh38
NC_000007.13:g.92120704G>A , CM000669.1:g.92120704G>A	GRCh37
NC_000007.12:g.91958640G>A	NCBI36
NG_008341.1:g.42142C>T
NG_008341.2:g.42142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3320C>T (PEX1) MANE Select	ENSP00000248633.4:p.Ser1107Phe
ENST00000248633.8:c.3320C>T (PEX1)	ENSP00000248633.4:p.Ser1107Phe
ENST00000428214.5:c.3149C>T (PEX1)	ENSP00000394413.1:p.Ser1050Phe
ENST00000438045.5:c.2354C>T (PEX1)	ENSP00000410438.1:p.Ser785Phe
ENST00000484913.5:n.3359C>T (PEX1)
ENST00000496420.5:n.4375C>T (PEX1)
NM_000466.2:c.3320C>T (PEX1)	NP_000457.1:p.Ser1107Phe
NM_001282677.1:c.3149C>T (PEX1)	NP_001269606.1:p.Ser1050Phe
NM_001282678.1:c.2696C>T (PEX1)	NP_001269607.1:p.Ser899Phe
XM_005250433.3:c.1571C>T (PEX1)	XP_005250490.1:p.Ser524Phe
XR_242246.3:n.3416C>T (PEX1)
XM_017012319.2:c.1571C>T (PEX1)	XP_016867808.1:p.Ser524Phe
XR_001744808.2:n.2347C>T (PEX1)
XR_001744842.2:n.2428G>A (GATAD1)
XR_001744843.2:n.2359G>A (GATAD1)
XR_002956472.1:n.2485G>A (GATAD1)
XR_002956473.1:n.2516G>A (GATAD1)
XR_002956474.1:n.2433G>A (GATAD1)
XR_242246.5:n.3367C>T (PEX1)
XR_927494.3:n.1210G>A (GATAD1)
XR_927500.3:n.1207G>A (GATAD1)
XR_927503.3:n.1141G>A (GATAD1)
NM_000466.3:c.3320C>T (PEX1) MANE Select	NP_000457.1:p.Ser1107Phe
NM_001282677.2:c.3149C>T (PEX1)	NP_001269606.1:p.Ser1050Phe
NM_001282678.2:c.2696C>T (PEX1)	NP_001269607.1:p.Ser899Phe