Canonical Allele Identifier: CA368161411

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489781-T-C
• MyVariant Identifiers: chr7:g.92119095T>C (hg19) ; chr7:g.92489781T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489781T>C , CM000669.2:g.92489781T>C	GRCh38
NC_000007.13:g.92119095T>C , CM000669.1:g.92119095T>C	GRCh37
NC_000007.12:g.91957031T>C	NCBI36
NG_008341.1:g.43751A>G
NG_008341.2:g.43751A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3569A>G (PEX1) MANE Select	ENSP00000248633.4:p.Gln1190Arg
ENST00000248633.8:c.3569A>G (PEX1)	ENSP00000248633.4:p.Gln1190Arg
ENST00000428214.5:c.3398A>G (PEX1)	ENSP00000394413.1:p.Gln1133Arg
ENST00000438045.5:c.2603A>G (PEX1)	ENSP00000410438.1:p.Gln868Arg
ENST00000469417.1:n.466A>G (PEX1)
ENST00000477342.1:n.14A>G (PEX1)
ENST00000484913.5:n.3608A>G (PEX1)
ENST00000496420.5:n.4624A>G (PEX1)
NM_000466.2:c.3569A>G (PEX1)	NP_000457.1:p.Gln1190Arg
NM_001282677.1:c.3398A>G (PEX1)	NP_001269606.1:p.Gln1133Arg
NM_001282678.1:c.2945A>G (PEX1)	NP_001269607.1:p.Gln982Arg
XM_005250433.3:c.1820A>G (PEX1)	XP_005250490.1:p.Gln607Arg
XR_242246.3:n.3665A>G (PEX1)
XR_927494.1:n.1036-1462T>C (GATAD1)
XR_927495.1:n.1036-305T>C (GATAD1)
XR_927496.1:n.1041-1462T>C (GATAD1)
XR_927497.1:n.1036-305T>C (GATAD1)
XR_927498.1:n.1124-1462T>C (GATAD1)
XR_927500.1:n.1033-1462T>C (GATAD1)
XR_927502.1:n.1033-305T>C (GATAD1)
XR_927503.1:n.967-1462T>C (GATAD1)
XM_017012319.2:c.1820A>G (PEX1)	XP_016867808.1:p.Gln607Arg
XR_001744808.2:n.2596A>G (PEX1)
XR_001744842.2:n.2281-1462T>C (GATAD1)
XR_001744843.2:n.2212-1462T>C (GATAD1)
XR_002956472.1:n.2281-305T>C (GATAD1)
XR_002956473.1:n.2369-1462T>C (GATAD1)
XR_002956474.1:n.2286-1462T>C (GATAD1)
XR_242246.5:n.3616A>G (PEX1)
XR_927494.3:n.1063-1462T>C (GATAD1)
XR_927500.3:n.1060-1462T>C (GATAD1)
XR_927503.3:n.994-1462T>C (GATAD1)
NM_000466.3:c.3569A>G (PEX1) MANE Select	NP_000457.1:p.Gln1190Arg
NM_001282677.2:c.3398A>G (PEX1)	NP_001269606.1:p.Gln1133Arg
NM_001282678.2:c.2945A>G (PEX1)	NP_001269607.1:p.Gln982Arg