Canonical Allele Identifier: CA1104485036

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791123022
• gnomAD v3: 7-92489175-A-C
• gnomAD v4: 7-92489175-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489175A>C , CM000669.2:g.92489175A>C	GRCh38
NC_000007.13:g.92118489A>C , CM000669.1:g.92118489A>C	GRCh37
NC_000007.12:g.91956425A>C	NCBI36
NG_008341.1:g.44357T>G
NG_008341.2:g.44357T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+118T>G (PEX1) MANE Select	ENSP00000248633.4:n.3767+118T>G
ENST00000248633.8:c.3767+118T>G (PEX1)	ENSP00000248633.4:n.3767+118T>G
ENST00000428214.5:c.3596+118T>G (PEX1)	ENSP00000394413.1:n.3596+118T>G
ENST00000438045.5:c.2801+118T>G (PEX1)	ENSP00000410438.1:n.2801+118T>G
ENST00000477342.1:n.502+118T>G (PEX1)
ENST00000484913.5:n.3806+118T>G (PEX1)
ENST00000496420.5:n.4817+118T>G (PEX1)
NM_000466.2:c.3767+118T>G (PEX1)	NP_000457.1:n.3767+118T>G
NM_001282677.1:c.3596+118T>G (PEX1)	NP_001269606.1:n.3596+118T>G
NM_001282678.1:c.3143+118T>G (PEX1)	NP_001269607.1:n.3143+118T>G
XM_005250433.3:c.2018+118T>G (PEX1)	XP_005250490.1:n.2018+118T>G
XR_242246.3:n.3858+118T>G (PEX1)
XR_927494.1:n.1036-2068A>C (GATAD1)
XR_927495.1:n.1036-911A>C (GATAD1)
XR_927496.1:n.1041-2068A>C (GATAD1)
XR_927497.1:n.1036-911A>C (GATAD1)
XR_927498.1:n.1124-2068A>C (GATAD1)
XR_927500.1:n.1033-2068A>C (GATAD1)
XR_927502.1:n.1033-911A>C (GATAD1)
XR_927503.1:n.967-2068A>C (GATAD1)
XM_017012319.2:c.2018+118T>G (PEX1)	XP_016867808.1:n.2018+118T>G
XR_001744808.2:n.2789+118T>G (PEX1)
XR_001744842.2:n.2281-2068A>C (GATAD1)
XR_001744843.2:n.2212-2068A>C (GATAD1)
XR_002956472.1:n.2281-911A>C (GATAD1)
XR_002956473.1:n.2369-2068A>C (GATAD1)
XR_002956474.1:n.2286-2068A>C (GATAD1)
XR_242246.5:n.3809+118T>G (PEX1)
XR_927494.3:n.1063-2068A>C (GATAD1)
XR_927500.3:n.1060-2068A>C (GATAD1)
XR_927503.3:n.994-2068A>C (GATAD1)
NM_000466.3:c.3767+118T>G (PEX1) MANE Select	NP_000457.1:n.3767+118T>G
NM_001282677.2:c.3596+118T>G (PEX1)	NP_001269606.1:n.3596+118T>G
NM_001282678.2:c.3143+118T>G (PEX1)	NP_001269607.1:n.3143+118T>G