Canonical Allele Identifier: CA368159420

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1585209870
• MyVariant Identifiers: chr7:g.92118648T>G (hg19) ; chr7:g.92489334T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489334T>G , CM000669.2:g.92489334T>G	GRCh38
NC_000007.13:g.92118648T>G , CM000669.1:g.92118648T>G	GRCh37
NC_000007.12:g.91956584T>G	NCBI36
NG_008341.1:g.44198A>C
NG_008341.2:g.44198A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3726A>C (PEX1) MANE Select	ENSP00000248633.4:p.Arg1242Ser
ENST00000248633.8:c.3726A>C (PEX1)	ENSP00000248633.4:p.Arg1242Ser
ENST00000428214.5:c.3555A>C (PEX1)	ENSP00000394413.1:p.Arg1185Ser
ENST00000438045.5:c.2760A>C (PEX1)	ENSP00000410438.1:p.Arg920Ser
ENST00000477342.1:n.461A>C (PEX1)
ENST00000484913.5:n.3765A>C (PEX1)
ENST00000496420.5:n.4776A>C (PEX1)
NM_000466.2:c.3726A>C (PEX1)	NP_000457.1:p.Arg1242Ser
NM_001282677.1:c.3555A>C (PEX1)	NP_001269606.1:p.Arg1185Ser
NM_001282678.1:c.3102A>C (PEX1)	NP_001269607.1:p.Arg1034Ser
XM_005250433.3:c.1977A>C (PEX1)	XP_005250490.1:p.Arg659Ser
XR_242246.3:n.3817A>C (PEX1)
XR_927494.1:n.1036-1909T>G (GATAD1)
XR_927495.1:n.1036-752T>G (GATAD1)
XR_927496.1:n.1041-1909T>G (GATAD1)
XR_927497.1:n.1036-752T>G (GATAD1)
XR_927498.1:n.1124-1909T>G (GATAD1)
XR_927500.1:n.1033-1909T>G (GATAD1)
XR_927502.1:n.1033-752T>G (GATAD1)
XR_927503.1:n.967-1909T>G (GATAD1)
XM_017012319.2:c.1977A>C (PEX1)	XP_016867808.1:p.Arg659Ser
XR_001744808.2:n.2748A>C (PEX1)
XR_001744842.2:n.2281-1909T>G (GATAD1)
XR_001744843.2:n.2212-1909T>G (GATAD1)
XR_002956472.1:n.2281-752T>G (GATAD1)
XR_002956473.1:n.2369-1909T>G (GATAD1)
XR_002956474.1:n.2286-1909T>G (GATAD1)
XR_242246.5:n.3768A>C (PEX1)
XR_927494.3:n.1063-1909T>G (GATAD1)
XR_927500.3:n.1060-1909T>G (GATAD1)
XR_927503.3:n.994-1909T>G (GATAD1)
NM_000466.3:c.3726A>C (PEX1) MANE Select	NP_000457.1:p.Arg1242Ser
NM_001282677.2:c.3555A>C (PEX1)	NP_001269606.1:p.Arg1185Ser
NM_001282678.2:c.3102A>C (PEX1)	NP_001269607.1:p.Arg1034Ser