Canonical Allele Identifier: CA4340840

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 502339
• ClinVar RCV Id: RCV000597655 ; RCV001319376
• dbSNP Id: rs185115432
• ExAC: 7:92120626 G / A
• gnomAD v2: 7-92120626-G-A
• gnomAD v3: 7-92491312-G-A
• gnomAD v4: 7-92491312-G-A
• MyVariant Identifiers: chr7:g.92120626G>A (hg19) ; chr7:g.92491312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491312G>A , CM000669.2:g.92491312G>A	GRCh38
NC_000007.13:g.92120626G>A , CM000669.1:g.92120626G>A	GRCh37
NC_000007.12:g.91958562G>A	NCBI36
NG_008341.1:g.42220C>T
NG_008341.2:g.42220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3398C>T (PEX1) MANE Select	ENSP00000248633.4:p.Ser1133Phe
ENST00000248633.8:c.3398C>T (PEX1)	ENSP00000248633.4:p.Ser1133Phe
ENST00000428214.5:c.3227C>T (PEX1)	ENSP00000394413.1:p.Ser1076Phe
ENST00000438045.5:c.2432C>T (PEX1)	ENSP00000410438.1:p.Ser811Phe
ENST00000484913.5:n.3437C>T (PEX1)
ENST00000496420.5:n.4453C>T (PEX1)
NM_000466.2:c.3398C>T (PEX1)	NP_000457.1:p.Ser1133Phe
NM_001282677.1:c.3227C>T (PEX1)	NP_001269606.1:p.Ser1076Phe
NM_001282678.1:c.2774C>T (PEX1)	NP_001269607.1:p.Ser925Phe
XM_005250433.3:c.1649C>T (PEX1)	XP_005250490.1:p.Ser550Phe
XR_242246.3:n.3494C>T (PEX1)
XR_927494.1:n.1105G>A (GATAD1)
XR_927496.1:n.1110G>A (GATAD1)
XR_927497.1:n.1162G>A (GATAD1)
XR_927498.1:n.1193G>A (GATAD1)
XR_927500.1:n.1102G>A (GATAD1)
XR_927503.1:n.1036G>A (GATAD1)
XM_017012319.2:c.1649C>T (PEX1)	XP_016867808.1:p.Ser550Phe
XR_001744808.2:n.2425C>T (PEX1)
XR_001744842.2:n.2350G>A (GATAD1)
XR_001744843.2:n.2281G>A (GATAD1)
XR_002956472.1:n.2407G>A (GATAD1)
XR_002956473.1:n.2438G>A (GATAD1)
XR_002956474.1:n.2355G>A (GATAD1)
XR_242246.5:n.3445C>T (PEX1)
XR_927494.3:n.1132G>A (GATAD1)
XR_927500.3:n.1129G>A (GATAD1)
XR_927503.3:n.1063G>A (GATAD1)
NM_000466.3:c.3398C>T (PEX1) MANE Select	NP_000457.1:p.Ser1133Phe
NM_001282677.2:c.3227C>T (PEX1)	NP_001269606.1:p.Ser1076Phe
NM_001282678.2:c.2774C>T (PEX1)	NP_001269607.1:p.Ser925Phe