Canonical Allele Identifier: CA4340762

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 970201
• ClinVar RCV Id: RCV001245730
• dbSNP Id: rs200306465
• ExAC: 7:92118724 A / C
• gnomAD v2: 7-92118724-A-C
• gnomAD v3: 7-92489410-A-C
• gnomAD v4: 7-92489410-A-C
• MyVariant Identifiers: chr7:g.92118724A>C (hg19) ; chr7:g.92489410A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489410A>C , CM000669.2:g.92489410A>C	GRCh38
NC_000007.13:g.92118724A>C , CM000669.1:g.92118724A>C	GRCh37
NC_000007.12:g.91956660A>C	NCBI36
NG_008341.1:g.44122T>G
NG_008341.2:g.44122T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3650T>G (PEX1) MANE Select	ENSP00000248633.4:p.Met1217Arg
ENST00000248633.8:c.3650T>G (PEX1)	ENSP00000248633.4:p.Met1217Arg
ENST00000428214.5:c.3479T>G (PEX1)	ENSP00000394413.1:p.Met1160Arg
ENST00000438045.5:c.2684T>G (PEX1)	ENSP00000410438.1:p.Met895Arg
ENST00000469417.1:n.547T>G (PEX1)
ENST00000477342.1:n.385T>G (PEX1)
ENST00000484913.5:n.3689T>G (PEX1)
ENST00000496420.5:n.4700T>G (PEX1)
NM_000466.2:c.3650T>G (PEX1)	NP_000457.1:p.Met1217Arg
NM_001282677.1:c.3479T>G (PEX1)	NP_001269606.1:p.Met1160Arg
NM_001282678.1:c.3026T>G (PEX1)	NP_001269607.1:p.Met1009Arg
XM_005250433.3:c.1901T>G (PEX1)	XP_005250490.1:p.Met634Arg
XR_242246.3:n.3741T>G (PEX1)
XR_927494.1:n.1036-1833A>C (GATAD1)
XR_927495.1:n.1036-676A>C (GATAD1)
XR_927496.1:n.1041-1833A>C (GATAD1)
XR_927497.1:n.1036-676A>C (GATAD1)
XR_927498.1:n.1124-1833A>C (GATAD1)
XR_927500.1:n.1033-1833A>C (GATAD1)
XR_927502.1:n.1033-676A>C (GATAD1)
XR_927503.1:n.967-1833A>C (GATAD1)
XM_017012319.2:c.1901T>G (PEX1)	XP_016867808.1:p.Met634Arg
XR_001744808.2:n.2672T>G (PEX1)
XR_001744842.2:n.2281-1833A>C (GATAD1)
XR_001744843.2:n.2212-1833A>C (GATAD1)
XR_002956472.1:n.2281-676A>C (GATAD1)
XR_002956473.1:n.2369-1833A>C (GATAD1)
XR_002956474.1:n.2286-1833A>C (GATAD1)
XR_242246.5:n.3692T>G (PEX1)
XR_927494.3:n.1063-1833A>C (GATAD1)
XR_927500.3:n.1060-1833A>C (GATAD1)
XR_927503.3:n.994-1833A>C (GATAD1)
NM_000466.3:c.3650T>G (PEX1) MANE Select	NP_000457.1:p.Met1217Arg
NM_001282677.2:c.3479T>G (PEX1)	NP_001269606.1:p.Met1160Arg
NM_001282678.2:c.3026T>G (PEX1)	NP_001269607.1:p.Met1009Arg