Canonical Allele Identifier: CA456624395

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1082983
• ClinVar RCV Id: RCV001399506
• dbSNP Id: rs2116246198
• MyVariant Identifiers: chr7:g.92147130T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517816T>C , CM000669.2:g.92517816T>C	GRCh38
NC_000007.13:g.92147130T>C , CM000669.1:g.92147130T>C	GRCh37
NC_000007.12:g.91985066T>C	NCBI36
NG_008341.1:g.15716A>G
NG_008341.2:g.15716A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.699A>G MANE Select	ENSP00000248633.4:p.Ser233=
ENST00000248633.8:c.699A>G	ENSP00000248633.4:p.Ser233=
ENST00000428214.5:c.699A>G	ENSP00000394413.1:p.Ser233=
ENST00000438045.5:c.274-3849A>G	ENSP00000410438.1:n.274-3849A>G
ENST00000484913.5:n.738A>G
NM_000466.2:c.699A>G	NP_000457.1:p.Ser233=
NM_001282677.1:c.699A>G	NP_001269606.1:p.Ser233=
NM_001282678.1:c.75A>G	NP_001269607.1:p.Ser25=
XR_242246.3:n.795A>G
XR_242246.5:n.746A>G
NM_000466.3:c.699A>G MANE Select	NP_000457.1:p.Ser233=
NM_001282677.2:c.699A>G	NP_001269606.1:p.Ser233=
NM_001282678.2:c.75A>G	NP_001269607.1:p.Ser25=