Canonical Allele Identifier: CA161963569

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1633696
• ClinVar RCV Id: RCV002130471
• dbSNP Id: rs915908576
• MyVariant Identifiers: chr7:g.92132394G>A (hg19) ; chr7:g.92503080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503080G>A , CM000669.2:g.92503080G>A	GRCh38
NC_000007.13:g.92132394G>A , CM000669.1:g.92132394G>A	GRCh37
NC_000007.12:g.91970330G>A	NCBI36
NG_008341.1:g.30452C>T
NG_008341.2:g.30452C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2187C>T MANE Select	ENSP00000248633.4:p.His729=
ENST00000248633.8:c.2187C>T	ENSP00000248633.4:p.His729=
ENST00000428214.5:c.2016C>T	ENSP00000394413.1:p.His672=
ENST00000438045.5:c.1221C>T	ENSP00000410438.1:p.His407=
ENST00000484913.5:n.2226C>T
ENST00000496420.5:n.1863C>T
NM_000466.2:c.2187C>T	NP_000457.1:p.His729=
NM_001282677.1:c.2016C>T	NP_001269606.1:p.His672=
NM_001282678.1:c.1563C>T	NP_001269607.1:p.His521=
XM_005250433.3:c.438C>T	XP_005250490.1:p.His146=
XR_242246.3:n.2283C>T
XM_017012319.2:c.438C>T	XP_016867808.1:p.His146=
XR_001744808.2:n.1214C>T
XR_242246.5:n.2234C>T
NM_000466.3:c.2187C>T MANE Select	NP_000457.1:p.His729=
NM_001282677.2:c.2016C>T	NP_001269606.1:p.His672=
NM_001282678.2:c.1563C>T	NP_001269607.1:p.His521=