Canonical Allele Identifier: CA368197466

Gene: PEX1

Linked Data

• ClinVar Variation Id: 956950
• ClinVar RCV Id: RCV001229848
• dbSNP Id: rs1792836885
• MyVariant Identifiers: chr7:g.92146654T>C (hg19) ; chr7:g.92517340T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517340T>C , CM000669.2:g.92517340T>C	GRCh38
NC_000007.13:g.92146654T>C , CM000669.1:g.92146654T>C	GRCh37
NC_000007.12:g.91984590T>C	NCBI36
NG_008341.1:g.16192A>G
NG_008341.2:g.16192A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1175A>G MANE Select	ENSP00000248633.4:p.Glu392Gly
ENST00000248633.8:c.1175A>G	ENSP00000248633.4:p.Glu392Gly
ENST00000422866.1:c.76A>G
ENST00000428214.5:c.1175A>G	ENSP00000394413.1:p.Glu392Gly
ENST00000438045.5:c.274-3373A>G	ENSP00000410438.1:n.274-3373A>G
ENST00000484913.5:n.1214A>G
NM_000466.2:c.1175A>G	NP_000457.1:p.Glu392Gly
NM_001282677.1:c.1175A>G	NP_001269606.1:p.Glu392Gly
NM_001282678.1:c.551A>G	NP_001269607.1:p.Glu184Gly
XR_242246.3:n.1271A>G
XM_017012319.2:c.-492A>G	XP_016867808.1:n.-492A>G
XR_001744808.2:n.285A>G
XR_242246.5:n.1222A>G
NM_000466.3:c.1175A>G MANE Select	NP_000457.1:p.Glu392Gly
NM_001282677.2:c.1175A>G	NP_001269606.1:p.Glu392Gly
NM_001282678.2:c.551A>G	NP_001269607.1:p.Glu184Gly