Canonical Allele Identifier: CA2683716665

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489267-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489267C>T , CM000669.2:g.92489267C>T	GRCh38
NC_000007.13:g.92118581C>T , CM000669.1:g.92118581C>T	GRCh37
NC_000007.12:g.91956517C>T	NCBI36
NG_008341.1:g.44265G>A
NG_008341.2:g.44265G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3767+26G>A (PEX1) MANE Select	ENSP00000248633.4:n.3767+26G>A
ENST00000248633.8:c.3767+26G>A (PEX1)	ENSP00000248633.4:n.3767+26G>A
ENST00000428214.5:c.3596+26G>A (PEX1)	ENSP00000394413.1:n.3596+26G>A
ENST00000438045.5:c.2801+26G>A (PEX1)	ENSP00000410438.1:n.2801+26G>A
ENST00000477342.1:n.502+26G>A (PEX1)
ENST00000484913.5:n.3806+26G>A (PEX1)
ENST00000496420.5:n.4817+26G>A (PEX1)
NM_000466.2:c.3767+26G>A (PEX1)	NP_000457.1:n.3767+26G>A
NM_001282677.1:c.3596+26G>A (PEX1)	NP_001269606.1:n.3596+26G>A
NM_001282678.1:c.3143+26G>A (PEX1)	NP_001269607.1:n.3143+26G>A
XM_005250433.3:c.2018+26G>A (PEX1)	XP_005250490.1:n.2018+26G>A
XR_242246.3:n.3858+26G>A (PEX1)
XR_927494.1:n.1036-1976C>T (GATAD1)
XR_927495.1:n.1036-819C>T (GATAD1)
XR_927496.1:n.1041-1976C>T (GATAD1)
XR_927497.1:n.1036-819C>T (GATAD1)
XR_927498.1:n.1124-1976C>T (GATAD1)
XR_927500.1:n.1033-1976C>T (GATAD1)
XR_927502.1:n.1033-819C>T (GATAD1)
XR_927503.1:n.967-1976C>T (GATAD1)
XM_017012319.2:c.2018+26G>A (PEX1)	XP_016867808.1:n.2018+26G>A
XR_001744808.2:n.2789+26G>A (PEX1)
XR_001744842.2:n.2281-1976C>T (GATAD1)
XR_001744843.2:n.2212-1976C>T (GATAD1)
XR_002956472.1:n.2281-819C>T (GATAD1)
XR_002956473.1:n.2369-1976C>T (GATAD1)
XR_002956474.1:n.2286-1976C>T (GATAD1)
XR_242246.5:n.3809+26G>A (PEX1)
XR_927494.3:n.1063-1976C>T (GATAD1)
XR_927500.3:n.1060-1976C>T (GATAD1)
XR_927503.3:n.994-1976C>T (GATAD1)
NM_000466.3:c.3767+26G>A (PEX1) MANE Select	NP_000457.1:n.3767+26G>A
NM_001282677.2:c.3596+26G>A (PEX1)	NP_001269606.1:n.3596+26G>A
NM_001282678.2:c.3143+26G>A (PEX1)	NP_001269607.1:n.3143+26G>A