Canonical Allele Identifier: CA368161789

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2677617
• ClinVar RCV Id: RCV003476751 ; RCV003759876
• MyVariant Identifiers: chr7:g.92119159G>A (hg19) ; chr7:g.92489845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489845G>A , CM000669.2:g.92489845G>A	GRCh38
NC_000007.13:g.92119159G>A , CM000669.1:g.92119159G>A	GRCh37
NC_000007.12:g.91957095G>A	NCBI36
NG_008341.1:g.43687C>T
NG_008341.2:g.43687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3505C>T (PEX1) MANE Select	ENSP00000248633.4:p.Gln1169Ter
ENST00000248633.8:c.3505C>T (PEX1)	ENSP00000248633.4:p.Gln1169Ter
ENST00000428214.5:c.3334C>T (PEX1)	ENSP00000394413.1:p.Gln1112Ter
ENST00000438045.5:c.2539C>T (PEX1)	ENSP00000410438.1:p.Gln847Ter
ENST00000469417.1:n.402C>T (PEX1)
ENST00000484913.5:n.3544C>T (PEX1)
ENST00000496420.5:n.4560C>T (PEX1)
NM_000466.2:c.3505C>T (PEX1)	NP_000457.1:p.Gln1169Ter
NM_001282677.1:c.3334C>T (PEX1)	NP_001269606.1:p.Gln1112Ter
NM_001282678.1:c.2881C>T (PEX1)	NP_001269607.1:p.Gln961Ter
XM_005250433.3:c.1756C>T (PEX1)	XP_005250490.1:p.Gln586Ter
XR_242246.3:n.3601C>T (PEX1)
XR_927494.1:n.1036-1398G>A (GATAD1)
XR_927495.1:n.1036-241G>A (GATAD1)
XR_927496.1:n.1041-1398G>A (GATAD1)
XR_927497.1:n.1036-241G>A (GATAD1)
XR_927498.1:n.1124-1398G>A (GATAD1)
XR_927500.1:n.1033-1398G>A (GATAD1)
XR_927502.1:n.1033-241G>A (GATAD1)
XR_927503.1:n.967-1398G>A (GATAD1)
XM_017012319.2:c.1756C>T (PEX1)	XP_016867808.1:p.Gln586Ter
XR_001744808.2:n.2532C>T (PEX1)
XR_001744842.2:n.2281-1398G>A (GATAD1)
XR_001744843.2:n.2212-1398G>A (GATAD1)
XR_002956472.1:n.2281-241G>A (GATAD1)
XR_002956473.1:n.2369-1398G>A (GATAD1)
XR_002956474.1:n.2286-1398G>A (GATAD1)
XR_242246.5:n.3552C>T (PEX1)
XR_927494.3:n.1063-1398G>A (GATAD1)
XR_927500.3:n.1060-1398G>A (GATAD1)
XR_927503.3:n.994-1398G>A (GATAD1)
NM_000466.3:c.3505C>T (PEX1) MANE Select	NP_000457.1:p.Gln1169Ter
NM_001282677.2:c.3334C>T (PEX1)	NP_001269606.1:p.Gln1112Ter
NM_001282678.2:c.2881C>T (PEX1)	NP_001269607.1:p.Gln961Ter