Canonical Allele Identifier: CA161952226

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs969814143
• gnomAD v3: 7-92489805-T-C
• gnomAD v4: 7-92489805-T-C
• MyVariant Identifiers: chr7:g.92119119T>C (hg19) ; chr7:g.92489805T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489805T>C , CM000669.2:g.92489805T>C	GRCh38
NC_000007.13:g.92119119T>C , CM000669.1:g.92119119T>C	GRCh37
NC_000007.12:g.91957055T>C	NCBI36
NG_008341.1:g.43727A>G
NG_008341.2:g.43727A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3545A>G (PEX1) MANE Select	ENSP00000248633.4:p.Gln1182Arg
ENST00000248633.8:c.3545A>G (PEX1)	ENSP00000248633.4:p.Gln1182Arg
ENST00000428214.5:c.3374A>G (PEX1)	ENSP00000394413.1:p.Gln1125Arg
ENST00000438045.5:c.2579A>G (PEX1)	ENSP00000410438.1:p.Gln860Arg
ENST00000469417.1:n.442A>G (PEX1)
ENST00000484913.5:n.3584A>G (PEX1)
ENST00000496420.5:n.4600A>G (PEX1)
NM_000466.2:c.3545A>G (PEX1)	NP_000457.1:p.Gln1182Arg
NM_001282677.1:c.3374A>G (PEX1)	NP_001269606.1:p.Gln1125Arg
NM_001282678.1:c.2921A>G (PEX1)	NP_001269607.1:p.Gln974Arg
XM_005250433.3:c.1796A>G (PEX1)	XP_005250490.1:p.Gln599Arg
XR_242246.3:n.3641A>G (PEX1)
XR_927494.1:n.1036-1438T>C (GATAD1)
XR_927495.1:n.1036-281T>C (GATAD1)
XR_927496.1:n.1041-1438T>C (GATAD1)
XR_927497.1:n.1036-281T>C (GATAD1)
XR_927498.1:n.1124-1438T>C (GATAD1)
XR_927500.1:n.1033-1438T>C (GATAD1)
XR_927502.1:n.1033-281T>C (GATAD1)
XR_927503.1:n.967-1438T>C (GATAD1)
XM_017012319.2:c.1796A>G (PEX1)	XP_016867808.1:p.Gln599Arg
XR_001744808.2:n.2572A>G (PEX1)
XR_001744842.2:n.2281-1438T>C (GATAD1)
XR_001744843.2:n.2212-1438T>C (GATAD1)
XR_002956472.1:n.2281-281T>C (GATAD1)
XR_002956473.1:n.2369-1438T>C (GATAD1)
XR_002956474.1:n.2286-1438T>C (GATAD1)
XR_242246.5:n.3592A>G (PEX1)
XR_927494.3:n.1063-1438T>C (GATAD1)
XR_927500.3:n.1060-1438T>C (GATAD1)
XR_927503.3:n.994-1438T>C (GATAD1)
NM_000466.3:c.3545A>G (PEX1) MANE Select	NP_000457.1:p.Gln1182Arg
NM_001282677.2:c.3374A>G (PEX1)	NP_001269606.1:p.Gln1125Arg
NM_001282678.2:c.2921A>G (PEX1)	NP_001269607.1:p.Gln974Arg