Canonical Allele Identifier: CA368161805

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489848-C-G
• MyVariant Identifiers: chr7:g.92119162C>G (hg19) ; chr7:g.92489848C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489848C>G , CM000669.2:g.92489848C>G	GRCh38
NC_000007.13:g.92119162C>G , CM000669.1:g.92119162C>G	GRCh37
NC_000007.12:g.91957098C>G	NCBI36
NG_008341.1:g.43684G>C
NG_008341.2:g.43684G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3502G>C (PEX1) MANE Select	ENSP00000248633.4:p.Asp1168His
ENST00000248633.8:c.3502G>C (PEX1)	ENSP00000248633.4:p.Asp1168His
ENST00000428214.5:c.3331G>C (PEX1)	ENSP00000394413.1:p.Asp1111His
ENST00000438045.5:c.2536G>C (PEX1)	ENSP00000410438.1:p.Asp846His
ENST00000469417.1:n.399G>C (PEX1)
ENST00000484913.5:n.3541G>C (PEX1)
ENST00000496420.5:n.4557G>C (PEX1)
NM_000466.2:c.3502G>C (PEX1)	NP_000457.1:p.Asp1168His
NM_001282677.1:c.3331G>C (PEX1)	NP_001269606.1:p.Asp1111His
NM_001282678.1:c.2878G>C (PEX1)	NP_001269607.1:p.Asp960His
XM_005250433.3:c.1753G>C (PEX1)	XP_005250490.1:p.Asp585His
XR_242246.3:n.3598G>C (PEX1)
XR_927494.1:n.1036-1395C>G (GATAD1)
XR_927495.1:n.1036-238C>G (GATAD1)
XR_927496.1:n.1041-1395C>G (GATAD1)
XR_927497.1:n.1036-238C>G (GATAD1)
XR_927498.1:n.1124-1395C>G (GATAD1)
XR_927500.1:n.1033-1395C>G (GATAD1)
XR_927502.1:n.1033-238C>G (GATAD1)
XR_927503.1:n.967-1395C>G (GATAD1)
XM_017012319.2:c.1753G>C (PEX1)	XP_016867808.1:p.Asp585His
XR_001744808.2:n.2529G>C (PEX1)
XR_001744842.2:n.2281-1395C>G (GATAD1)
XR_001744843.2:n.2212-1395C>G (GATAD1)
XR_002956472.1:n.2281-238C>G (GATAD1)
XR_002956473.1:n.2369-1395C>G (GATAD1)
XR_002956474.1:n.2286-1395C>G (GATAD1)
XR_242246.5:n.3549G>C (PEX1)
XR_927494.3:n.1063-1395C>G (GATAD1)
XR_927500.3:n.1060-1395C>G (GATAD1)
XR_927503.3:n.994-1395C>G (GATAD1)
NM_000466.3:c.3502G>C (PEX1) MANE Select	NP_000457.1:p.Asp1168His
NM_001282677.2:c.3331G>C (PEX1)	NP_001269606.1:p.Asp1111His
NM_001282678.2:c.2878G>C (PEX1)	NP_001269607.1:p.Asp960His