Canonical Allele Identifier: CA368164139

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs752475812
• MyVariant Identifiers: chr7:g.92120720A>T (hg19) ; chr7:g.92491406A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491406A>T , CM000669.2:g.92491406A>T	GRCh38
NC_000007.13:g.92120720A>T , CM000669.1:g.92120720A>T	GRCh37
NC_000007.12:g.91958656A>T	NCBI36
NG_008341.1:g.42126T>A
NG_008341.2:g.42126T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3304T>A (PEX1) MANE Select	ENSP00000248633.4:p.Cys1102Ser
ENST00000248633.8:c.3304T>A (PEX1)	ENSP00000248633.4:p.Cys1102Ser
ENST00000428214.5:c.3133T>A (PEX1)	ENSP00000394413.1:p.Cys1045Ser
ENST00000438045.5:c.2338T>A (PEX1)	ENSP00000410438.1:p.Cys780Ser
ENST00000484913.5:n.3343T>A (PEX1)
ENST00000496420.5:n.4359T>A (PEX1)
NM_000466.2:c.3304T>A (PEX1)	NP_000457.1:p.Cys1102Ser
NM_001282677.1:c.3133T>A (PEX1)	NP_001269606.1:p.Cys1045Ser
NM_001282678.1:c.2680T>A (PEX1)	NP_001269607.1:p.Cys894Ser
XM_005250433.3:c.1555T>A (PEX1)	XP_005250490.1:p.Cys519Ser
XR_242246.3:n.3400T>A (PEX1)
XM_017012319.2:c.1555T>A (PEX1)	XP_016867808.1:p.Cys519Ser
XR_001744808.2:n.2331T>A (PEX1)
XR_001744842.2:n.2444A>T (GATAD1)
XR_001744843.2:n.2375A>T (GATAD1)
XR_002956472.1:n.2501A>T (GATAD1)
XR_002956473.1:n.2532A>T (GATAD1)
XR_002956474.1:n.2449A>T (GATAD1)
XR_242246.5:n.3351T>A (PEX1)
XR_927494.3:n.1226A>T (GATAD1)
XR_927500.3:n.1223A>T (GATAD1)
XR_927503.3:n.1157A>T (GATAD1)
NM_000466.3:c.3304T>A (PEX1) MANE Select	NP_000457.1:p.Cys1102Ser
NM_001282677.2:c.3133T>A (PEX1)	NP_001269606.1:p.Cys1045Ser
NM_001282678.2:c.2680T>A (PEX1)	NP_001269607.1:p.Cys894Ser