Canonical Allele Identifier: CA456624066

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1127059
• ClinVar RCV Id: RCV001459320
• dbSNP Id: rs2116245440
• MyVariant Identifiers: chr7:g.92147013T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517699T>C , CM000669.2:g.92517699T>C	GRCh38
NC_000007.13:g.92147013T>C , CM000669.1:g.92147013T>C	GRCh37
NC_000007.12:g.91984949T>C	NCBI36
NG_008341.1:g.15833A>G
NG_008341.2:g.15833A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.816A>G MANE Select	ENSP00000248633.4:p.Ala272=
ENST00000248633.8:c.816A>G	ENSP00000248633.4:p.Ala272=
ENST00000428214.5:c.816A>G	ENSP00000394413.1:p.Ala272=
ENST00000438045.5:c.274-3732A>G	ENSP00000410438.1:n.274-3732A>G
ENST00000484913.5:n.855A>G
NM_000466.2:c.816A>G	NP_000457.1:p.Ala272=
NM_001282677.1:c.816A>G	NP_001269606.1:p.Ala272=
NM_001282678.1:c.192A>G	NP_001269607.1:p.Ala64=
XR_242246.3:n.912A>G
XR_242246.5:n.863A>G
NM_000466.3:c.816A>G MANE Select	NP_000457.1:p.Ala272=
NM_001282677.2:c.816A>G	NP_001269606.1:p.Ala272=
NM_001282678.2:c.192A>G	NP_001269607.1:p.Ala64=