Canonical Allele Identifier: CA2683718682

Gene: PEX1

Linked Data

• gnomAD v4: 7-92504628-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504628C>A , CM000669.2:g.92504628C>A	GRCh38
NC_000007.13:g.92133942C>A , CM000669.1:g.92133942C>A	GRCh37
NC_000007.12:g.91971878C>A	NCBI36
NG_008341.1:g.28904G>T
NG_008341.2:g.28904G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+104G>T MANE Select	ENSP00000248633.4:n.2071+104G>T
ENST00000248633.8:c.2071+104G>T	ENSP00000248633.4:n.2071+104G>T
ENST00000428214.5:c.1901-1433G>T	ENSP00000394413.1:n.1901-1433G>T
ENST00000438045.5:c.1105+104G>T	ENSP00000410438.1:n.1105+104G>T
ENST00000484913.5:n.2110+104G>T
ENST00000496420.5:n.1747+104G>T
NM_000466.2:c.2071+104G>T	NP_000457.1:n.2071+104G>T
NM_001282677.1:c.1901-1433G>T	NP_001269606.1:n.1901-1433G>T
NM_001282678.1:c.1447+104G>T	NP_001269607.1:n.1447+104G>T
XM_005250433.3:c.322+104G>T	XP_005250490.1:n.322+104G>T
XR_242246.3:n.2167+104G>T
XM_017012319.2:c.322+104G>T	XP_016867808.1:n.322+104G>T
XR_001744808.2:n.1098+104G>T
XR_242246.5:n.2118+104G>T
NM_000466.3:c.2071+104G>T MANE Select	NP_000457.1:n.2071+104G>T
NM_001282677.2:c.1901-1433G>T	NP_001269606.1:n.1901-1433G>T
NM_001282678.2:c.1447+104G>T	NP_001269607.1:n.1447+104G>T