Canonical Allele Identifier: CA456484060

Gene: PEX1

Linked Data

• ClinVar Variation Id: 593554
• ClinVar RCV Id: RCV000728633
• dbSNP Id: rs1562869817
• MyVariant Identifiers: chr7:g.92151416C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522102C>T , CM000669.2:g.92522102C>T	GRCh38
NC_000007.13:g.92151416C>T , CM000669.1:g.92151416C>T	GRCh37
NC_000007.12:g.91989352C>T	NCBI36
NG_008341.1:g.11430G>A
NG_008341.2:g.11430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.273G>A MANE Select	ENSP00000248633.4:p.Gln91=
ENST00000248633.8:c.273G>A	ENSP00000248633.4:p.Gln91=
ENST00000428214.5:c.273G>A	ENSP00000394413.1:p.Gln91=
ENST00000438045.5:c.273G>A	ENSP00000410438.1:p.Gln91=
ENST00000484913.5:n.277G>A
NM_000466.2:c.273G>A	NP_000457.1:p.Gln91=
NM_001282677.1:c.273G>A	NP_001269606.1:p.Gln91=
NM_001282678.1:c.-387G>A	NP_001269607.1:n.-387G>A
XR_242246.3:n.369G>A
XR_242246.5:n.320G>A
NM_000466.3:c.273G>A MANE Select	NP_000457.1:p.Gln91=
NM_001282677.2:c.273G>A	NP_001269606.1:p.Gln91=
NM_001282678.2:c.-387G>A	NP_001269607.1:n.-387G>A