Canonical Allele Identifier: CA368163799

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120665T>C (hg19) ; chr7:g.92491351T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491351T>C , CM000669.2:g.92491351T>C	GRCh38
NC_000007.13:g.92120665T>C , CM000669.1:g.92120665T>C	GRCh37
NC_000007.12:g.91958601T>C	NCBI36
NG_008341.1:g.42181A>G
NG_008341.2:g.42181A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3359A>G (PEX1) MANE Select	ENSP00000248633.4:p.Glu1120Gly
ENST00000248633.8:c.3359A>G (PEX1)	ENSP00000248633.4:p.Glu1120Gly
ENST00000428214.5:c.3188A>G (PEX1)	ENSP00000394413.1:p.Glu1063Gly
ENST00000438045.5:c.2393A>G (PEX1)	ENSP00000410438.1:p.Glu798Gly
ENST00000484913.5:n.3398A>G (PEX1)
ENST00000496420.5:n.4414A>G (PEX1)
NM_000466.2:c.3359A>G (PEX1)	NP_000457.1:p.Glu1120Gly
NM_001282677.1:c.3188A>G (PEX1)	NP_001269606.1:p.Glu1063Gly
NM_001282678.1:c.2735A>G (PEX1)	NP_001269607.1:p.Glu912Gly
XM_005250433.3:c.1610A>G (PEX1)	XP_005250490.1:p.Glu537Gly
XR_242246.3:n.3455A>G (PEX1)
XM_017012319.2:c.1610A>G (PEX1)	XP_016867808.1:p.Glu537Gly
XR_001744808.2:n.2386A>G (PEX1)
XR_001744842.2:n.2389T>C (GATAD1)
XR_001744843.2:n.2320T>C (GATAD1)
XR_002956472.1:n.2446T>C (GATAD1)
XR_002956473.1:n.2477T>C (GATAD1)
XR_002956474.1:n.2394T>C (GATAD1)
XR_242246.5:n.3406A>G (PEX1)
XR_927494.3:n.1171T>C (GATAD1)
XR_927500.3:n.1168T>C (GATAD1)
XR_927503.3:n.1102T>C (GATAD1)
NM_000466.3:c.3359A>G (PEX1) MANE Select	NP_000457.1:p.Glu1120Gly
NM_001282677.2:c.3188A>G (PEX1)	NP_001269606.1:p.Glu1063Gly
NM_001282678.2:c.2735A>G (PEX1)	NP_001269607.1:p.Glu912Gly