Canonical Allele Identifier: CA456483720

Gene: PEX1

Linked Data

• gnomAD v4: 7-92510980-C-T
• MyVariant Identifiers: chr7:g.92140294C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510980C>T , CM000669.2:g.92510980C>T	GRCh38
NC_000007.13:g.92140294C>T , CM000669.1:g.92140294C>T	GRCh37
NC_000007.12:g.91978230C>T	NCBI36
NG_008341.1:g.22552G>A
NG_008341.2:g.22552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1551G>A MANE Select	ENSP00000248633.4:p.Leu517=
ENST00000248633.8:c.1551G>A	ENSP00000248633.4:p.Leu517=
ENST00000422866.1:c.452G>A
ENST00000428214.5:c.1551G>A	ENSP00000394413.1:p.Leu517=
ENST00000438045.5:c.585G>A	ENSP00000410438.1:p.Leu195=
ENST00000476923.1:n.312G>A
ENST00000484913.5:n.1590G>A
NM_000466.2:c.1551G>A	NP_000457.1:p.Leu517=
NM_001282677.1:c.1551G>A	NP_001269606.1:p.Leu517=
NM_001282678.1:c.927G>A	NP_001269607.1:p.Leu309=
XM_005250433.3:c.-116G>A	XP_005250490.1:n.-116G>A
XR_242246.3:n.1647G>A
XM_017012319.2:c.-116G>A	XP_016867808.1:n.-116G>A
XR_001744808.2:n.661G>A
XR_242246.5:n.1598G>A
NM_000466.3:c.1551G>A MANE Select	NP_000457.1:p.Leu517=
NM_001282677.2:c.1551G>A	NP_001269606.1:p.Leu517=
NM_001282678.2:c.927G>A	NP_001269607.1:p.Leu309=