Canonical Allele Identifier: CA4341376

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371690
• ClinVar RCV Id: RCV000410009 ; RCV000412445 ; RCV002523884 ; RCV003475975
• dbSNP Id: rs754983126
• ExAC: 7:92140317 C / A
• gnomAD v2: 7-92140317-C-A
• gnomAD v4: 7-92511003-C-A
• MyVariant Identifiers: chr7:g.92140317C>A (hg19) ; chr7:g.92511003C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511003C>A , CM000669.2:g.92511003C>A	GRCh38
NC_000007.13:g.92140317C>A , CM000669.1:g.92140317C>A	GRCh37
NC_000007.12:g.91978253C>A	NCBI36
NG_008341.1:g.22529G>T
NG_008341.2:g.22529G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1528G>T MANE Select	ENSP00000248633.4:p.Glu510Ter
ENST00000248633.8:c.1528G>T	ENSP00000248633.4:p.Glu510Ter
ENST00000422866.1:c.429G>T
ENST00000428214.5:c.1528G>T	ENSP00000394413.1:p.Glu510Ter
ENST00000438045.5:c.562G>T	ENSP00000410438.1:p.Glu188Ter
ENST00000476923.1:n.289G>T
ENST00000484913.5:n.1567G>T
NM_000466.2:c.1528G>T	NP_000457.1:p.Glu510Ter
NM_001282677.1:c.1528G>T	NP_001269606.1:p.Glu510Ter
NM_001282678.1:c.904G>T	NP_001269607.1:p.Glu302Ter
XM_005250433.3:c.-139G>T	XP_005250490.1:n.-139G>T
XR_242246.3:n.1624G>T
XM_017012319.2:c.-139G>T	XP_016867808.1:n.-139G>T
XR_001744808.2:n.638G>T
XR_242246.5:n.1575G>T
NM_000466.3:c.1528G>T MANE Select	NP_000457.1:p.Glu510Ter
NM_001282677.2:c.1528G>T	NP_001269606.1:p.Glu510Ter
NM_001282678.2:c.904G>T	NP_001269607.1:p.Glu302Ter