Canonical Allele Identifier: CA4340801

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1168299
• ClinVar RCV Id: RCV001518444
• dbSNP Id: rs200059929
• ExAC: 7:92119138 C / A
• gnomAD v2: 7-92119138-C-A
• gnomAD v3: 7-92489824-C-A
• gnomAD v4: 7-92489824-C-A
• MyVariant Identifiers: chr7:g.92119138C>A (hg19) ; chr7:g.92489824C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489824C>A , CM000669.2:g.92489824C>A	GRCh38
NC_000007.13:g.92119138C>A , CM000669.1:g.92119138C>A	GRCh37
NC_000007.12:g.91957074C>A	NCBI36
NG_008341.1:g.43708G>T
NG_008341.2:g.43708G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3526G>T (PEX1) MANE Select	ENSP00000248633.4:p.Val1176Leu
ENST00000248633.8:c.3526G>T (PEX1)	ENSP00000248633.4:p.Val1176Leu
ENST00000428214.5:c.3355G>T (PEX1)	ENSP00000394413.1:p.Val1119Leu
ENST00000438045.5:c.2560G>T (PEX1)	ENSP00000410438.1:p.Val854Leu
ENST00000469417.1:n.423G>T (PEX1)
ENST00000484913.5:n.3565G>T (PEX1)
ENST00000496420.5:n.4581G>T (PEX1)
NM_000466.2:c.3526G>T (PEX1)	NP_000457.1:p.Val1176Leu
NM_001282677.1:c.3355G>T (PEX1)	NP_001269606.1:p.Val1119Leu
NM_001282678.1:c.2902G>T (PEX1)	NP_001269607.1:p.Val968Leu
XM_005250433.3:c.1777G>T (PEX1)	XP_005250490.1:p.Val593Leu
XR_242246.3:n.3622G>T (PEX1)
XR_927494.1:n.1036-1419C>A (GATAD1)
XR_927495.1:n.1036-262C>A (GATAD1)
XR_927496.1:n.1041-1419C>A (GATAD1)
XR_927497.1:n.1036-262C>A (GATAD1)
XR_927498.1:n.1124-1419C>A (GATAD1)
XR_927500.1:n.1033-1419C>A (GATAD1)
XR_927502.1:n.1033-262C>A (GATAD1)
XR_927503.1:n.967-1419C>A (GATAD1)
XM_017012319.2:c.1777G>T (PEX1)	XP_016867808.1:p.Val593Leu
XR_001744808.2:n.2553G>T (PEX1)
XR_001744842.2:n.2281-1419C>A (GATAD1)
XR_001744843.2:n.2212-1419C>A (GATAD1)
XR_002956472.1:n.2281-262C>A (GATAD1)
XR_002956473.1:n.2369-1419C>A (GATAD1)
XR_002956474.1:n.2286-1419C>A (GATAD1)
XR_242246.5:n.3573G>T (PEX1)
XR_927494.3:n.1063-1419C>A (GATAD1)
XR_927500.3:n.1060-1419C>A (GATAD1)
XR_927503.3:n.994-1419C>A (GATAD1)
NM_000466.3:c.3526G>T (PEX1) MANE Select	NP_000457.1:p.Val1176Leu
NM_001282677.2:c.3355G>T (PEX1)	NP_001269606.1:p.Val1119Leu
NM_001282678.2:c.2902G>T (PEX1)	NP_001269607.1:p.Val968Leu