Canonical Allele Identifier: CA1104469732

Gene: PEX1

Linked Data

• dbSNP Id: rs1792215469
• gnomAD v3: 7-92506880-C-CT
• gnomAD v4: 7-92506880-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506881dup , CM000669.2:g.92506881dup	GRCh38
NC_000007.13:g.92136195dup , CM000669.1:g.92136195dup	GRCh37
NC_000007.12:g.91974131dup	NCBI36
NG_008341.1:g.26651dup
NG_008341.2:g.26651dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1803+113dup MANE Select	ENSP00000248633.4:n.1803+113dup
ENST00000248633.8:c.1803+113dup	ENSP00000248633.4:n.1803+113dup
ENST00000422866.1:c.621+113dup
ENST00000428214.5:c.1803+113dup	ENSP00000394413.1:n.1803+113dup
ENST00000438045.5:c.837+113dup	ENSP00000410438.1:n.837+113dup
ENST00000484913.5:n.1842+113dup
ENST00000496420.5:n.943dup
NM_000466.2:c.1803+113dup	NP_000457.1:n.1803+113dup
NM_001282677.1:c.1803+113dup	NP_001269606.1:n.1803+113dup
NM_001282678.1:c.1179+113dup	NP_001269607.1:n.1179+113dup
XM_005250433.3:c.54+113dup	XP_005250490.1:n.54+113dup
XR_242246.3:n.1899+113dup
XM_017012319.2:c.54+113dup	XP_016867808.1:n.54+113dup
XR_001744808.2:n.830+113dup
XR_242246.5:n.1850+113dup
NM_000466.3:c.1803+113dup MANE Select	NP_000457.1:n.1803+113dup
NM_001282677.2:c.1803+113dup	NP_001269606.1:n.1803+113dup
NM_001282678.2:c.1179+113dup	NP_001269607.1:n.1179+113dup