Canonical Allele Identifier: CA368200648

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1725981
• ClinVar RCV Id: RCV002306952
• gnomAD v4: 7-92517856-G-T
• MyVariant Identifiers: chr7:g.92147170G>T (hg19) ; chr7:g.92517856G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517856G>T , CM000669.2:g.92517856G>T	GRCh38
NC_000007.13:g.92147170G>T , CM000669.1:g.92147170G>T	GRCh37
NC_000007.12:g.91985106G>T	NCBI36
NG_008341.1:g.15676C>A
NG_008341.2:g.15676C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.659C>A MANE Select	ENSP00000248633.4:p.Ser220Ter
ENST00000248633.8:c.659C>A	ENSP00000248633.4:p.Ser220Ter
ENST00000428214.5:c.659C>A	ENSP00000394413.1:p.Ser220Ter
ENST00000438045.5:c.274-3889C>A	ENSP00000410438.1:n.274-3889C>A
ENST00000484913.5:n.698C>A
NM_000466.2:c.659C>A	NP_000457.1:p.Ser220Ter
NM_001282677.1:c.659C>A	NP_001269606.1:p.Ser220Ter
NM_001282678.1:c.35C>A	NP_001269607.1:p.Ser12Ter
XR_242246.3:n.755C>A
XR_242246.5:n.706C>A
NM_000466.3:c.659C>A MANE Select	NP_000457.1:p.Ser220Ter
NM_001282677.2:c.659C>A	NP_001269606.1:p.Ser220Ter
NM_001282678.2:c.35C>A	NP_001269607.1:p.Ser12Ter