Canonical Allele Identifier: CA456483284

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1095505
• ClinVar RCV Id: RCV001416406
• dbSNP Id: rs921615253
• MyVariant Identifiers: chr7:g.92134107C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504793C>T , CM000669.2:g.92504793C>T	GRCh38
NC_000007.13:g.92134107C>T , CM000669.1:g.92134107C>T	GRCh37
NC_000007.12:g.91972043C>T	NCBI36
NG_008341.1:g.28739G>A
NG_008341.2:g.28739G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2010G>A MANE Select	ENSP00000248633.4:p.Leu670=
ENST00000248633.8:c.2010G>A	ENSP00000248633.4:p.Leu670=
ENST00000428214.5:c.1900+1455G>A	ENSP00000394413.1:n.1900+1455G>A
ENST00000438045.5:c.1044G>A	ENSP00000410438.1:p.Leu348=
ENST00000484913.5:n.2049G>A
ENST00000496420.5:n.1686G>A
NM_000466.2:c.2010G>A	NP_000457.1:p.Leu670=
NM_001282677.1:c.1900+1455G>A	NP_001269606.1:n.1900+1455G>A
NM_001282678.1:c.1386G>A	NP_001269607.1:p.Leu462=
XM_005250433.3:c.261G>A	XP_005250490.1:p.Leu87=
XR_242246.3:n.2106G>A
XM_017012319.2:c.261G>A	XP_016867808.1:p.Leu87=
XR_001744808.2:n.1037G>A
XR_242246.5:n.2057G>A
NM_000466.3:c.2010G>A MANE Select	NP_000457.1:p.Leu670=
NM_001282677.2:c.1900+1455G>A	NP_001269606.1:n.1900+1455G>A
NM_001282678.2:c.1386G>A	NP_001269607.1:p.Leu462=