Canonical Allele Identifier: CA2683716622

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489193-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489193C>A , CM000669.2:g.92489193C>A	GRCh38
NC_000007.13:g.92118507C>A , CM000669.1:g.92118507C>A	GRCh37
NC_000007.12:g.91956443C>A	NCBI36
NG_008341.1:g.44339G>T
NG_008341.2:g.44339G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+100G>T (PEX1) MANE Select	ENSP00000248633.4:n.3767+100G>T
ENST00000248633.8:c.3767+100G>T (PEX1)	ENSP00000248633.4:n.3767+100G>T
ENST00000428214.5:c.3596+100G>T (PEX1)	ENSP00000394413.1:n.3596+100G>T
ENST00000438045.5:c.2801+100G>T (PEX1)	ENSP00000410438.1:n.2801+100G>T
ENST00000477342.1:n.502+100G>T (PEX1)
ENST00000484913.5:n.3806+100G>T (PEX1)
ENST00000496420.5:n.4817+100G>T (PEX1)
NM_000466.2:c.3767+100G>T (PEX1)	NP_000457.1:n.3767+100G>T
NM_001282677.1:c.3596+100G>T (PEX1)	NP_001269606.1:n.3596+100G>T
NM_001282678.1:c.3143+100G>T (PEX1)	NP_001269607.1:n.3143+100G>T
XM_005250433.3:c.2018+100G>T (PEX1)	XP_005250490.1:n.2018+100G>T
XR_242246.3:n.3858+100G>T (PEX1)
XR_927494.1:n.1036-2050C>A (GATAD1)
XR_927495.1:n.1036-893C>A (GATAD1)
XR_927496.1:n.1041-2050C>A (GATAD1)
XR_927497.1:n.1036-893C>A (GATAD1)
XR_927498.1:n.1124-2050C>A (GATAD1)
XR_927500.1:n.1033-2050C>A (GATAD1)
XR_927502.1:n.1033-893C>A (GATAD1)
XR_927503.1:n.967-2050C>A (GATAD1)
XM_017012319.2:c.2018+100G>T (PEX1)	XP_016867808.1:n.2018+100G>T
XR_001744808.2:n.2789+100G>T (PEX1)
XR_001744842.2:n.2281-2050C>A (GATAD1)
XR_001744843.2:n.2212-2050C>A (GATAD1)
XR_002956472.1:n.2281-893C>A (GATAD1)
XR_002956473.1:n.2369-2050C>A (GATAD1)
XR_002956474.1:n.2286-2050C>A (GATAD1)
XR_242246.5:n.3809+100G>T (PEX1)
XR_927494.3:n.1063-2050C>A (GATAD1)
XR_927500.3:n.1060-2050C>A (GATAD1)
XR_927503.3:n.994-2050C>A (GATAD1)
NM_000466.3:c.3767+100G>T (PEX1) MANE Select	NP_000457.1:n.3767+100G>T
NM_001282677.2:c.3596+100G>T (PEX1)	NP_001269606.1:n.3596+100G>T
NM_001282678.2:c.3143+100G>T (PEX1)	NP_001269607.1:n.3143+100G>T