Canonical Allele Identifier: CA368173308

Gene: PEX1

Linked Data

• ClinVar Variation Id: 848834
• ClinVar RCV Id: RCV001052670 ; RCV002261266
• dbSNP Id: rs1791831263
• gnomAD v4: 7-92499729-C-T
• MyVariant Identifiers: chr7:g.92129043C>T (hg19) ; chr7:g.92499729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499729C>T , CM000669.2:g.92499729C>T	GRCh38
NC_000007.13:g.92129043C>T , CM000669.1:g.92129043C>T	GRCh37
NC_000007.12:g.91966979C>T	NCBI36
NG_008341.1:g.33803G>A
NG_008341.2:g.33803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2693G>A MANE Select	ENSP00000248633.4:p.Ser898Asn
ENST00000248633.8:c.2693G>A	ENSP00000248633.4:p.Ser898Asn
ENST00000428214.5:c.2522G>A	ENSP00000394413.1:p.Ser841Asn
ENST00000438045.5:c.1727G>A	ENSP00000410438.1:p.Ser576Asn
ENST00000484913.5:n.2732G>A
ENST00000496420.5:n.2585G>A
NM_000466.2:c.2693G>A	NP_000457.1:p.Ser898Asn
NM_001282677.1:c.2522G>A	NP_001269606.1:p.Ser841Asn
NM_001282678.1:c.2069G>A	NP_001269607.1:p.Ser690Asn
XM_005250433.3:c.944G>A	XP_005250490.1:p.Ser315Asn
XR_242246.3:n.2789G>A
XM_017012319.2:c.944G>A	XP_016867808.1:p.Ser315Asn
XR_001744808.2:n.1720G>A
XR_242246.5:n.2740G>A
NM_000466.3:c.2693G>A MANE Select	NP_000457.1:p.Ser898Asn
NM_001282677.2:c.2522G>A	NP_001269606.1:p.Ser841Asn
NM_001282678.2:c.2069G>A	NP_001269607.1:p.Ser690Asn