Canonical Allele Identifier: CA4341576

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371782
• ClinVar RCV Id: RCV000409397 ; RCV000411910 ; RCV000780585 ; RCV001376604 ; RCV002488843 ; RCV003475991
• dbSNP Id: rs149806989
• ExAC: 7:92147282 G / A
• gnomAD v2: 7-92147282-G-A
• gnomAD v4: 7-92517968-G-A
• MyVariant Identifiers: chr7:g.92147282G>A (hg19) ; chr7:g.92517968G>A (hg38)
• PubMed: PMID:19105186

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517968G>A , CM000669.2:g.92517968G>A	GRCh38
NC_000007.13:g.92147282G>A , CM000669.1:g.92147282G>A	GRCh37
NC_000007.12:g.91985218G>A	NCBI36
NG_008341.1:g.15564C>T
NG_008341.2:g.15564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.547C>T MANE Select	ENSP00000248633.4:p.Arg183Ter
ENST00000248633.8:c.547C>T	ENSP00000248633.4:p.Arg183Ter
ENST00000428214.5:c.547C>T	ENSP00000394413.1:p.Arg183Ter
ENST00000438045.5:c.274-4001C>T	ENSP00000410438.1:n.274-4001C>T
ENST00000484913.5:n.586C>T
NM_000466.2:c.547C>T	NP_000457.1:p.Arg183Ter
NM_001282677.1:c.547C>T	NP_001269606.1:p.Arg183Ter
NM_001282678.1:c.-78C>T	NP_001269607.1:n.-78C>T
XR_242246.3:n.643C>T
XR_242246.5:n.594C>T
NM_000466.3:c.547C>T MANE Select	NP_000457.1:p.Arg183Ter
NM_001282677.2:c.547C>T	NP_001269606.1:p.Arg183Ter
NM_001282678.2:c.-78C>T	NP_001269607.1:n.-78C>T