Canonical Allele Identifier: CA456624177

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1358709921
• gnomAD v2: 7-92120745-A-G
• MyVariant Identifiers: chr7:g.92120745A>G (hg19) ; chr7:g.92491431A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491431A>G , CM000669.2:g.92491431A>G	GRCh38
NC_000007.13:g.92120745A>G , CM000669.1:g.92120745A>G	GRCh37
NC_000007.12:g.91958681A>G	NCBI36
NG_008341.1:g.42101T>C
NG_008341.2:g.42101T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3279T>C (PEX1) MANE Select	ENSP00000248633.4:p.Ser1093=
ENST00000248633.8:c.3279T>C (PEX1)	ENSP00000248633.4:p.Ser1093=
ENST00000428214.5:c.3108T>C (PEX1)	ENSP00000394413.1:p.Ser1036=
ENST00000438045.5:c.2313T>C (PEX1)	ENSP00000410438.1:p.Ser771=
ENST00000484913.5:n.3318T>C (PEX1)
ENST00000496420.5:n.4334T>C (PEX1)
NM_000466.2:c.3279T>C (PEX1)	NP_000457.1:p.Ser1093=
NM_001282677.1:c.3108T>C (PEX1)	NP_001269606.1:p.Ser1036=
NM_001282678.1:c.2655T>C (PEX1)	NP_001269607.1:p.Ser885=
XM_005250433.3:c.1530T>C (PEX1)	XP_005250490.1:p.Ser510=
XR_242246.3:n.3375T>C (PEX1)
XM_017012319.2:c.1530T>C (PEX1)	XP_016867808.1:p.Ser510=
XR_001744808.2:n.2306T>C (PEX1)
XR_001744842.2:n.2469A>G (GATAD1)
XR_001744843.2:n.2400A>G (GATAD1)
XR_002956472.1:n.2526A>G (GATAD1)
XR_002956473.1:n.2557A>G (GATAD1)
XR_002956474.1:n.2474A>G (GATAD1)
XR_242246.5:n.3326T>C (PEX1)
XR_927494.3:n.1251A>G (GATAD1)
XR_927500.3:n.1248A>G (GATAD1)
XR_927503.3:n.1182A>G (GATAD1)
NM_000466.3:c.3279T>C (PEX1) MANE Select	NP_000457.1:p.Ser1093=
NM_001282677.2:c.3108T>C (PEX1)	NP_001269606.1:p.Ser1036=
NM_001282678.2:c.2655T>C (PEX1)	NP_001269607.1:p.Ser885=