Canonical Allele Identifier: CA368164519

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120759G>C (hg19) ; chr7:g.92491445G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491445G>C , CM000669.2:g.92491445G>C	GRCh38
NC_000007.13:g.92120759G>C , CM000669.1:g.92120759G>C	GRCh37
NC_000007.12:g.91958695G>C	NCBI36
NG_008341.1:g.42087C>G
NG_008341.2:g.42087C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3265C>G (PEX1) MANE Select	ENSP00000248633.4:p.His1089Asp
ENST00000248633.8:c.3265C>G (PEX1)	ENSP00000248633.4:p.His1089Asp
ENST00000428214.5:c.3094C>G (PEX1)	ENSP00000394413.1:p.His1032Asp
ENST00000438045.5:c.2299C>G (PEX1)	ENSP00000410438.1:p.His767Asp
ENST00000484913.5:n.3304C>G (PEX1)
ENST00000496420.5:n.4320C>G (PEX1)
NM_000466.2:c.3265C>G (PEX1)	NP_000457.1:p.His1089Asp
NM_001282677.1:c.3094C>G (PEX1)	NP_001269606.1:p.His1032Asp
NM_001282678.1:c.2641C>G (PEX1)	NP_001269607.1:p.His881Asp
XM_005250433.3:c.1516C>G (PEX1)	XP_005250490.1:p.His506Asp
XR_242246.3:n.3361C>G (PEX1)
XM_017012319.2:c.1516C>G (PEX1)	XP_016867808.1:p.His506Asp
XR_001744808.2:n.2292C>G (PEX1)
XR_001744842.2:n.2483G>C (GATAD1)
XR_001744843.2:n.2414G>C (GATAD1)
XR_002956472.1:n.2540G>C (GATAD1)
XR_002956473.1:n.2571G>C (GATAD1)
XR_002956474.1:n.2488G>C (GATAD1)
XR_242246.5:n.3312C>G (PEX1)
XR_927494.3:n.1265G>C (GATAD1)
XR_927500.3:n.1262G>C (GATAD1)
XR_927503.3:n.1196G>C (GATAD1)
NM_000466.3:c.3265C>G (PEX1) MANE Select	NP_000457.1:p.His1089Asp
NM_001282677.2:c.3094C>G (PEX1)	NP_001269606.1:p.His1032Asp
NM_001282678.2:c.2641C>G (PEX1)	NP_001269607.1:p.His881Asp