Canonical Allele Identifier: CA913127966

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134189dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504875dup , CM000669.2:g.92504875dup	GRCh38
NC_000007.13:g.92134189dup , CM000669.1:g.92134189dup	GRCh37
NC_000007.12:g.91972125dup	NCBI36
NG_008341.1:g.28659dup
NG_008341.2:g.28659dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1930dup MANE Select	ENSP00000248633.4:p.Leu644ProfsTer20
ENST00000248633.8:c.1930dup	ENSP00000248633.4:p.Leu644ProfsTer20
ENST00000428214.5:c.1900+1375dup	ENSP00000394413.1:n.1900+1375dup
ENST00000438045.5:c.964dup	ENSP00000410438.1:p.Leu322ProfsTer20
ENST00000484913.5:n.1969dup
ENST00000496420.5:n.1606dup
NM_000466.2:c.1930dup	NP_000457.1:p.Leu644ProfsTer20
NM_001282677.1:c.1900+1375dup	NP_001269606.1:n.1900+1375dup
NM_001282678.1:c.1306dup	NP_001269607.1:p.Leu436ProfsTer20
XM_005250433.3:c.181dup	XP_005250490.1:p.Leu61ProfsTer20
XR_242246.3:n.2026dup
XM_017012319.2:c.181dup	XP_016867808.1:p.Leu61ProfsTer20
XR_001744808.2:n.957dup
XR_242246.5:n.1977dup
NM_000466.3:c.1930dup MANE Select	NP_000457.1:p.Leu644ProfsTer20
NM_001282677.2:c.1900+1375dup	NP_001269606.1:n.1900+1375dup
NM_001282678.2:c.1306dup	NP_001269607.1:p.Leu436ProfsTer20