Canonical Allele Identifier: CA4340720

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs139054881
• ExAC: 7:92116813 A / C
• gnomAD v2: 7-92116813-A-C
• MyVariant Identifiers: chr7:g.92116813A>C (hg19) ; chr7:g.92487499A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92487499A>C , CM000669.2:g.92487499A>C	GRCh38
NC_000007.13:g.92116813A>C , CM000669.1:g.92116813A>C	GRCh37
NC_000007.12:g.91954749A>C	NCBI36
NG_008341.1:g.46033T>G
NG_008341.2:g.46033T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3810T>G (PEX1) MANE Select	ENSP00000248633.4:p.Ser1270Arg
ENST00000248633.8:c.3810T>G (PEX1)	ENSP00000248633.4:p.Ser1270Arg
ENST00000428214.5:c.3639T>G (PEX1)	ENSP00000394413.1:p.Ser1213Arg
ENST00000438045.5:c.2844T>G (PEX1)	ENSP00000410438.1:p.Ser948Arg
ENST00000477342.1:n.545T>G (PEX1)
ENST00000484913.5:n.3849T>G (PEX1)
ENST00000496420.5:n.4860T>G (PEX1)
NM_000466.2:c.3810T>G (PEX1)	NP_000457.1:p.Ser1270Arg
NM_001282677.1:c.3639T>G (PEX1)	NP_001269606.1:p.Ser1213Arg
NM_001282678.1:c.3186T>G (PEX1)	NP_001269607.1:p.Ser1062Arg
XM_005250433.3:c.2061T>G (PEX1)	XP_005250490.1:p.Ser687Arg
XR_242246.3:n.3901T>G (PEX1)
XR_927494.1:n.1036-3744A>C (GATAD1)
XR_927495.1:n.1036-2587A>C (GATAD1)
XR_927496.1:n.1041-3744A>C (GATAD1)
XR_927497.1:n.1036-2587A>C (GATAD1)
XR_927498.1:n.1124-3744A>C (GATAD1)
XR_927500.1:n.1033-3744A>C (GATAD1)
XR_927502.1:n.1033-2587A>C (GATAD1)
XR_927503.1:n.967-3744A>C (GATAD1)
XM_017012319.2:c.2061T>G (PEX1)	XP_016867808.1:p.Ser687Arg
XR_001744808.2:n.2832T>G (PEX1)
XR_001744842.2:n.2281-3744A>C (GATAD1)
XR_001744843.2:n.2212-3744A>C (GATAD1)
XR_002956472.1:n.2281-2587A>C (GATAD1)
XR_002956473.1:n.2369-3744A>C (GATAD1)
XR_002956474.1:n.2286-3744A>C (GATAD1)
XR_242246.5:n.3852T>G (PEX1)
XR_927494.3:n.1063-3744A>C (GATAD1)
XR_927500.3:n.1060-3744A>C (GATAD1)
XR_927503.3:n.994-3744A>C (GATAD1)
NM_000466.3:c.3810T>G (PEX1) MANE Select	NP_000457.1:p.Ser1270Arg
NM_001282677.2:c.3639T>G (PEX1)	NP_001269606.1:p.Ser1213Arg
NM_001282678.2:c.3186T>G (PEX1)	NP_001269607.1:p.Ser1062Arg