Canonical Allele Identifier: CA161951782

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1148060
• ClinVar RCV Id: RCV001487788
• dbSNP Id: rs1048574377
• gnomAD v4: 7-92489337-T-C
• MyVariant Identifiers: chr7:g.92118651T>C (hg19) ; chr7:g.92489337T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489337T>C , CM000669.2:g.92489337T>C	GRCh38
NC_000007.13:g.92118651T>C , CM000669.1:g.92118651T>C	GRCh37
NC_000007.12:g.91956587T>C	NCBI36
NG_008341.1:g.44195A>G
NG_008341.2:g.44195A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3723A>G (PEX1) MANE Select	ENSP00000248633.4:p.Thr1241=
ENST00000248633.8:c.3723A>G (PEX1)	ENSP00000248633.4:p.Thr1241=
ENST00000428214.5:c.3552A>G (PEX1)	ENSP00000394413.1:p.Thr1184=
ENST00000438045.5:c.2757A>G (PEX1)	ENSP00000410438.1:p.Thr919=
ENST00000477342.1:n.458A>G (PEX1)
ENST00000484913.5:n.3762A>G (PEX1)
ENST00000496420.5:n.4773A>G (PEX1)
NM_000466.2:c.3723A>G (PEX1)	NP_000457.1:p.Thr1241=
NM_001282677.1:c.3552A>G (PEX1)	NP_001269606.1:p.Thr1184=
NM_001282678.1:c.3099A>G (PEX1)	NP_001269607.1:p.Thr1033=
XM_005250433.3:c.1974A>G (PEX1)	XP_005250490.1:p.Thr658=
XR_242246.3:n.3814A>G (PEX1)
XR_927494.1:n.1036-1906T>C (GATAD1)
XR_927495.1:n.1036-749T>C (GATAD1)
XR_927496.1:n.1041-1906T>C (GATAD1)
XR_927497.1:n.1036-749T>C (GATAD1)
XR_927498.1:n.1124-1906T>C (GATAD1)
XR_927500.1:n.1033-1906T>C (GATAD1)
XR_927502.1:n.1033-749T>C (GATAD1)
XR_927503.1:n.967-1906T>C (GATAD1)
XM_017012319.2:c.1974A>G (PEX1)	XP_016867808.1:p.Thr658=
XR_001744808.2:n.2745A>G (PEX1)
XR_001744842.2:n.2281-1906T>C (GATAD1)
XR_001744843.2:n.2212-1906T>C (GATAD1)
XR_002956472.1:n.2281-749T>C (GATAD1)
XR_002956473.1:n.2369-1906T>C (GATAD1)
XR_002956474.1:n.2286-1906T>C (GATAD1)
XR_242246.5:n.3765A>G (PEX1)
XR_927494.3:n.1063-1906T>C (GATAD1)
XR_927500.3:n.1060-1906T>C (GATAD1)
XR_927503.3:n.994-1906T>C (GATAD1)
NM_000466.3:c.3723A>G (PEX1) MANE Select	NP_000457.1:p.Thr1241=
NM_001282677.2:c.3552A>G (PEX1)	NP_001269606.1:p.Thr1184=
NM_001282678.2:c.3099A>G (PEX1)	NP_001269607.1:p.Thr1033=