Canonical Allele Identifier: CA456484128

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1131672
• ClinVar RCV Id: RCV001465616
• dbSNP Id: rs1793079717
• MyVariant Identifiers: chr7:g.92151533A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522219A>G , CM000669.2:g.92522219A>G	GRCh38
NC_000007.13:g.92151533A>G , CM000669.1:g.92151533A>G	GRCh37
NC_000007.12:g.91989469A>G	NCBI36
NG_008341.1:g.11313T>C
NG_008341.2:g.11313T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.156T>C MANE Select	ENSP00000248633.4:p.Ser52=
ENST00000248633.8:c.156T>C	ENSP00000248633.4:p.Ser52=
ENST00000428214.5:c.156T>C	ENSP00000394413.1:p.Ser52=
ENST00000438045.5:c.156T>C	ENSP00000410438.1:p.Ser52=
ENST00000484913.5:n.160T>C
NM_000466.2:c.156T>C	NP_000457.1:p.Ser52=
NM_001282677.1:c.156T>C	NP_001269606.1:p.Ser52=
NM_001282678.1:c.-504T>C	NP_001269607.1:n.-504T>C
XR_242246.3:n.252T>C
XR_242246.5:n.203T>C
NM_000466.3:c.156T>C MANE Select	NP_000457.1:p.Ser52=
NM_001282677.2:c.156T>C	NP_001269606.1:p.Ser52=
NM_001282678.2:c.-504T>C	NP_001269607.1:n.-504T>C