Canonical Allele Identifier: CA456480825

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1955872
• ClinVar RCV Id: RCV002695712
• dbSNP Id: rs1562842787
• gnomAD v4: 7-92489861-T-A
• MyVariant Identifiers: chr7:g.92119175T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489861T>A , CM000669.2:g.92489861T>A	GRCh38
NC_000007.13:g.92119175T>A , CM000669.1:g.92119175T>A	GRCh37
NC_000007.12:g.91957111T>A	NCBI36
NG_008341.1:g.43671A>T
NG_008341.2:g.43671A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3489A>T (PEX1) MANE Select	ENSP00000248633.4:p.Gly1163=
ENST00000248633.8:c.3489A>T (PEX1)	ENSP00000248633.4:p.Gly1163=
ENST00000428214.5:c.3318A>T (PEX1)	ENSP00000394413.1:p.Gly1106=
ENST00000438045.5:c.2523A>T (PEX1)	ENSP00000410438.1:p.Gly841=
ENST00000469417.1:n.386A>T (PEX1)
ENST00000484913.5:n.3528A>T (PEX1)
ENST00000496420.5:n.4544A>T (PEX1)
NM_000466.2:c.3489A>T (PEX1)	NP_000457.1:p.Gly1163=
NM_001282677.1:c.3318A>T (PEX1)	NP_001269606.1:p.Gly1106=
NM_001282678.1:c.2865A>T (PEX1)	NP_001269607.1:p.Gly955=
XM_005250433.3:c.1740A>T (PEX1)	XP_005250490.1:p.Gly580=
XR_242246.3:n.3585A>T (PEX1)
XR_927494.1:n.1036-1382T>A (GATAD1)
XR_927495.1:n.1036-225T>A (GATAD1)
XR_927496.1:n.1041-1382T>A (GATAD1)
XR_927497.1:n.1036-225T>A (GATAD1)
XR_927498.1:n.1124-1382T>A (GATAD1)
XR_927500.1:n.1033-1382T>A (GATAD1)
XR_927502.1:n.1033-225T>A (GATAD1)
XR_927503.1:n.967-1382T>A (GATAD1)
XM_017012319.2:c.1740A>T (PEX1)	XP_016867808.1:p.Gly580=
XR_001744808.2:n.2516A>T (PEX1)
XR_001744842.2:n.2281-1382T>A (GATAD1)
XR_001744843.2:n.2212-1382T>A (GATAD1)
XR_002956472.1:n.2281-225T>A (GATAD1)
XR_002956473.1:n.2369-1382T>A (GATAD1)
XR_002956474.1:n.2286-1382T>A (GATAD1)
XR_242246.5:n.3536A>T (PEX1)
XR_927494.3:n.1063-1382T>A (GATAD1)
XR_927500.3:n.1060-1382T>A (GATAD1)
XR_927503.3:n.994-1382T>A (GATAD1)
NM_000466.3:c.3489A>T (PEX1) MANE Select	NP_000457.1:p.Gly1163=
NM_001282677.2:c.3318A>T (PEX1)	NP_001269606.1:p.Gly1106=
NM_001282678.2:c.2865A>T (PEX1)	NP_001269607.1:p.Gly955=