Canonical Allele Identifier: CA368159474

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92118654G>C (hg19) ; chr7:g.92489340G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489340G>C , CM000669.2:g.92489340G>C	GRCh38
NC_000007.13:g.92118654G>C , CM000669.1:g.92118654G>C	GRCh37
NC_000007.12:g.91956590G>C	NCBI36
NG_008341.1:g.44192C>G
NG_008341.2:g.44192C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3720C>G (PEX1) MANE Select	ENSP00000248633.4:p.His1240Gln
ENST00000248633.8:c.3720C>G (PEX1)	ENSP00000248633.4:p.His1240Gln
ENST00000428214.5:c.3549C>G (PEX1)	ENSP00000394413.1:p.His1183Gln
ENST00000438045.5:c.2754C>G (PEX1)	ENSP00000410438.1:p.His918Gln
ENST00000477342.1:n.455C>G (PEX1)
ENST00000484913.5:n.3759C>G (PEX1)
ENST00000496420.5:n.4770C>G (PEX1)
NM_000466.2:c.3720C>G (PEX1)	NP_000457.1:p.His1240Gln
NM_001282677.1:c.3549C>G (PEX1)	NP_001269606.1:p.His1183Gln
NM_001282678.1:c.3096C>G (PEX1)	NP_001269607.1:p.His1032Gln
XM_005250433.3:c.1971C>G (PEX1)	XP_005250490.1:p.His657Gln
XR_242246.3:n.3811C>G (PEX1)
XR_927494.1:n.1036-1903G>C (GATAD1)
XR_927495.1:n.1036-746G>C (GATAD1)
XR_927496.1:n.1041-1903G>C (GATAD1)
XR_927497.1:n.1036-746G>C (GATAD1)
XR_927498.1:n.1124-1903G>C (GATAD1)
XR_927500.1:n.1033-1903G>C (GATAD1)
XR_927502.1:n.1033-746G>C (GATAD1)
XR_927503.1:n.967-1903G>C (GATAD1)
XM_017012319.2:c.1971C>G (PEX1)	XP_016867808.1:p.His657Gln
XR_001744808.2:n.2742C>G (PEX1)
XR_001744842.2:n.2281-1903G>C (GATAD1)
XR_001744843.2:n.2212-1903G>C (GATAD1)
XR_002956472.1:n.2281-746G>C (GATAD1)
XR_002956473.1:n.2369-1903G>C (GATAD1)
XR_002956474.1:n.2286-1903G>C (GATAD1)
XR_242246.5:n.3762C>G (PEX1)
XR_927494.3:n.1063-1903G>C (GATAD1)
XR_927500.3:n.1060-1903G>C (GATAD1)
XR_927503.3:n.994-1903G>C (GATAD1)
NM_000466.3:c.3720C>G (PEX1) MANE Select	NP_000457.1:p.His1240Gln
NM_001282677.2:c.3549C>G (PEX1)	NP_001269606.1:p.His1183Gln
NM_001282678.2:c.3096C>G (PEX1)	NP_001269607.1:p.His1032Gln