Canonical Allele Identifier: CA456624377

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146902G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517588G>A , CM000669.2:g.92517588G>A	GRCh38
NC_000007.13:g.92146902G>A , CM000669.1:g.92146902G>A	GRCh37
NC_000007.12:g.91984838G>A	NCBI36
NG_008341.1:g.15944C>T
NG_008341.2:g.15944C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.927C>T MANE Select	ENSP00000248633.4:p.His309=
ENST00000248633.8:c.927C>T	ENSP00000248633.4:p.His309=
ENST00000428214.5:c.927C>T	ENSP00000394413.1:p.His309=
ENST00000438045.5:c.274-3621C>T	ENSP00000410438.1:n.274-3621C>T
ENST00000484913.5:n.966C>T
NM_000466.2:c.927C>T	NP_000457.1:p.His309=
NM_001282677.1:c.927C>T	NP_001269606.1:p.His309=
NM_001282678.1:c.303C>T	NP_001269607.1:p.His101=
XR_242246.3:n.1023C>T
XM_017012319.2:c.-740C>T	XP_016867808.1:n.-740C>T
XR_001744808.2:n.37C>T
XR_242246.5:n.974C>T
NM_000466.3:c.927C>T MANE Select	NP_000457.1:p.His309=
NM_001282677.2:c.927C>T	NP_001269606.1:p.His309=
NM_001282678.2:c.303C>T	NP_001269607.1:p.His101=