Canonical Allele Identifier: CA368161433

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2276189
• ClinVar RCV Id: RCV002826934
• gnomAD v4: 7-92489784-G-T
• MyVariant Identifiers: chr7:g.92119098G>T (hg19) ; chr7:g.92489784G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489784G>T , CM000669.2:g.92489784G>T	GRCh38
NC_000007.13:g.92119098G>T , CM000669.1:g.92119098G>T	GRCh37
NC_000007.12:g.91957034G>T	NCBI36
NG_008341.1:g.43748C>A
NG_008341.2:g.43748C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3566C>A (PEX1) MANE Select	ENSP00000248633.4:p.Thr1189Lys
ENST00000248633.8:c.3566C>A (PEX1)	ENSP00000248633.4:p.Thr1189Lys
ENST00000428214.5:c.3395C>A (PEX1)	ENSP00000394413.1:p.Thr1132Lys
ENST00000438045.5:c.2600C>A (PEX1)	ENSP00000410438.1:p.Thr867Lys
ENST00000469417.1:n.463C>A (PEX1)
ENST00000477342.1:n.11C>A (PEX1)
ENST00000484913.5:n.3605C>A (PEX1)
ENST00000496420.5:n.4621C>A (PEX1)
NM_000466.2:c.3566C>A (PEX1)	NP_000457.1:p.Thr1189Lys
NM_001282677.1:c.3395C>A (PEX1)	NP_001269606.1:p.Thr1132Lys
NM_001282678.1:c.2942C>A (PEX1)	NP_001269607.1:p.Thr981Lys
XM_005250433.3:c.1817C>A (PEX1)	XP_005250490.1:p.Thr606Lys
XR_242246.3:n.3662C>A (PEX1)
XR_927494.1:n.1036-1459G>T (GATAD1)
XR_927495.1:n.1036-302G>T (GATAD1)
XR_927496.1:n.1041-1459G>T (GATAD1)
XR_927497.1:n.1036-302G>T (GATAD1)
XR_927498.1:n.1124-1459G>T (GATAD1)
XR_927500.1:n.1033-1459G>T (GATAD1)
XR_927502.1:n.1033-302G>T (GATAD1)
XR_927503.1:n.967-1459G>T (GATAD1)
XM_017012319.2:c.1817C>A (PEX1)	XP_016867808.1:p.Thr606Lys
XR_001744808.2:n.2593C>A (PEX1)
XR_001744842.2:n.2281-1459G>T (GATAD1)
XR_001744843.2:n.2212-1459G>T (GATAD1)
XR_002956472.1:n.2281-302G>T (GATAD1)
XR_002956473.1:n.2369-1459G>T (GATAD1)
XR_002956474.1:n.2286-1459G>T (GATAD1)
XR_242246.5:n.3613C>A (PEX1)
XR_927494.3:n.1063-1459G>T (GATAD1)
XR_927500.3:n.1060-1459G>T (GATAD1)
XR_927503.3:n.994-1459G>T (GATAD1)
NM_000466.3:c.3566C>A (PEX1) MANE Select	NP_000457.1:p.Thr1189Lys
NM_001282677.2:c.3395C>A (PEX1)	NP_001269606.1:p.Thr1132Lys
NM_001282678.2:c.2942C>A (PEX1)	NP_001269607.1:p.Thr981Lys