Canonical Allele Identifier: CA16041166

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371689
• ClinVar RCV Id: RCV000409648 ; RCV000412085 ; RCV001865275
• dbSNP Id: rs1057517463
• MyVariant Identifiers: chr7:g.92140323dupC (hg19) ; chr7:g.92140322_92140323insC (hg19) ; chr7:g.92511009dupC (hg38) ; chr7:g.92511008_92511009insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511011dup , CM000669.2:g.92511011dup	GRCh38
NC_000007.13:g.92140325dup , CM000669.1:g.92140325dup	GRCh37
NC_000007.12:g.91978261dup	NCBI36
NG_008341.1:g.22523dup
NG_008341.2:g.22523dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1522dup MANE Select	ENSP00000248633.4:p.Glu508GlyfsTer6
ENST00000248633.8:c.1522dup	ENSP00000248633.4:p.Glu508GlyfsTer6
ENST00000422866.1:c.423dup
ENST00000428214.5:c.1522dup	ENSP00000394413.1:p.Glu508GlyfsTer6
ENST00000438045.5:c.556dup	ENSP00000410438.1:p.Glu186GlyfsTer6
ENST00000476923.1:n.283dup
ENST00000484913.5:n.1561dup
NM_000466.2:c.1522dup	NP_000457.1:p.Glu508GlyfsTer6
NM_001282677.1:c.1522dup	NP_001269606.1:p.Glu508GlyfsTer6
NM_001282678.1:c.898dup	NP_001269607.1:p.Glu300GlyfsTer6
XM_005250433.3:c.-145dup	XP_005250490.1:n.-145dup
XR_242246.3:n.1618dup
XM_017012319.2:c.-145dup	XP_016867808.1:n.-145dup
XR_001744808.2:n.632dup
XR_242246.5:n.1569dup
NM_000466.3:c.1522dup MANE Select	NP_000457.1:p.Glu508GlyfsTer6
NM_001282677.2:c.1522dup	NP_001269606.1:p.Glu508GlyfsTer6
NM_001282678.2:c.898dup	NP_001269607.1:p.Glu300GlyfsTer6