Canonical Allele Identifier: CA368181595

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503105A>T , CM000669.2:g.92503105A>T	GRCh38
NC_000007.13:g.92132419A>T , CM000669.1:g.92132419A>T	GRCh37
NC_000007.12:g.91970355A>T	NCBI36
NG_008341.1:g.30427T>A
NG_008341.2:g.30427T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2162T>A MANE Select	NP_000457.1:p.Leu721Ter
ENST00000248633.9:c.2162T>A MANE Select	ENSP00000248633.4:p.Leu721Ter
NM_000466.2:c.2162T>A	NP_000457.1:p.Leu721Ter
NM_001282677.1:c.1991T>A	NP_001269606.1:p.Leu664Ter
NM_001282677.2:c.1991T>A	NP_001269606.1:p.Leu664Ter
NM_001282678.1:c.1538T>A	NP_001269607.1:p.Leu513Ter
NM_001282678.2:c.1538T>A	NP_001269607.1:p.Leu513Ter
ENST00000248633.8:c.2162T>A	ENSP00000248633.4:p.Leu721Ter
ENST00000428214.5:c.1991T>A	ENSP00000394413.1:p.Leu664Ter
ENST00000438045.5:c.1196T>A	ENSP00000410438.1:p.Leu399Ter
ENST00000484913.5:n.2201T>A
ENST00000496420.5:n.1838T>A
XM_005250433.3:c.413T>A	XP_005250490.1:p.Leu138Ter
XM_017012319.2:c.413T>A	XP_016867808.1:p.Leu138Ter
XR_001744808.2:n.1189T>A
XR_242246.3:n.2258T>A
XR_242246.5:n.2209T>A