Canonical Allele Identifier: CA4340780

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs774662393
• ExAC: 7:92119007 A / G
• gnomAD v2: 7-92119007-A-G
• MyVariant Identifiers: chr7:g.92119007A>G (hg19) ; chr7:g.92489693A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489693A>G , CM000669.2:g.92489693A>G	GRCh38
NC_000007.13:g.92119007A>G , CM000669.1:g.92119007A>G	GRCh37
NC_000007.12:g.91956943A>G	NCBI36
NG_008341.1:g.43839T>C
NG_008341.2:g.43839T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3636+21T>C (PEX1) MANE Select	ENSP00000248633.4:n.3636+21T>C
ENST00000248633.8:c.3636+21T>C (PEX1)	ENSP00000248633.4:n.3636+21T>C
ENST00000428214.5:c.3465+21T>C (PEX1)	ENSP00000394413.1:n.3465+21T>C
ENST00000438045.5:c.2670+21T>C (PEX1)	ENSP00000410438.1:n.2670+21T>C
ENST00000469417.1:n.533+21T>C (PEX1)
ENST00000477342.1:n.102T>C (PEX1)
ENST00000484913.5:n.3675+21T>C (PEX1)
ENST00000496420.5:n.4686+26T>C (PEX1)
NM_000466.2:c.3636+21T>C (PEX1)	NP_000457.1:n.3636+21T>C
NM_001282677.1:c.3465+21T>C (PEX1)	NP_001269606.1:n.3465+21T>C
NM_001282678.1:c.3012+21T>C (PEX1)	NP_001269607.1:n.3012+21T>C
XM_005250433.3:c.1887+21T>C (PEX1)	XP_005250490.1:n.1887+21T>C
XR_242246.3:n.3727+26T>C (PEX1)
XR_927494.1:n.1036-1550A>G (GATAD1)
XR_927495.1:n.1036-393A>G (GATAD1)
XR_927496.1:n.1041-1550A>G (GATAD1)
XR_927497.1:n.1036-393A>G (GATAD1)
XR_927498.1:n.1124-1550A>G (GATAD1)
XR_927500.1:n.1033-1550A>G (GATAD1)
XR_927502.1:n.1033-393A>G (GATAD1)
XR_927503.1:n.967-1550A>G (GATAD1)
XM_017012319.2:c.1887+21T>C (PEX1)	XP_016867808.1:n.1887+21T>C
XR_001744808.2:n.2658+26T>C (PEX1)
XR_001744842.2:n.2281-1550A>G (GATAD1)
XR_001744843.2:n.2212-1550A>G (GATAD1)
XR_002956472.1:n.2281-393A>G (GATAD1)
XR_002956473.1:n.2369-1550A>G (GATAD1)
XR_002956474.1:n.2286-1550A>G (GATAD1)
XR_242246.5:n.3678+26T>C (PEX1)
XR_927494.3:n.1063-1550A>G (GATAD1)
XR_927500.3:n.1060-1550A>G (GATAD1)
XR_927503.3:n.994-1550A>G (GATAD1)
NM_000466.3:c.3636+21T>C (PEX1) MANE Select	NP_000457.1:n.3636+21T>C
NM_001282677.2:c.3465+21T>C (PEX1)	NP_001269606.1:n.3465+21T>C
NM_001282678.2:c.3012+21T>C (PEX1)	NP_001269607.1:n.3012+21T>C