Canonical Allele Identifier: CA456483286

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2128832
• ClinVar RCV Id: RCV003057770
• MyVariant Identifiers: chr7:g.92134110T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504796T>A , CM000669.2:g.92504796T>A	GRCh38
NC_000007.13:g.92134110T>A , CM000669.1:g.92134110T>A	GRCh37
NC_000007.12:g.91972046T>A	NCBI36
NG_008341.1:g.28736A>T
NG_008341.2:g.28736A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2007A>T MANE Select	ENSP00000248633.4:p.Gly669=
ENST00000248633.8:c.2007A>T	ENSP00000248633.4:p.Gly669=
ENST00000428214.5:c.1900+1452A>T	ENSP00000394413.1:n.1900+1452A>T
ENST00000438045.5:c.1041A>T	ENSP00000410438.1:p.Gly347=
ENST00000484913.5:n.2046A>T
ENST00000496420.5:n.1683A>T
NM_000466.2:c.2007A>T	NP_000457.1:p.Gly669=
NM_001282677.1:c.1900+1452A>T	NP_001269606.1:n.1900+1452A>T
NM_001282678.1:c.1383A>T	NP_001269607.1:p.Gly461=
XM_005250433.3:c.258A>T	XP_005250490.1:p.Gly86=
XR_242246.3:n.2103A>T
XM_017012319.2:c.258A>T	XP_016867808.1:p.Gly86=
XR_001744808.2:n.1034A>T
XR_242246.5:n.2054A>T
NM_000466.3:c.2007A>T MANE Select	NP_000457.1:p.Gly669=
NM_001282677.2:c.1900+1452A>T	NP_001269606.1:n.1900+1452A>T
NM_001282678.2:c.1383A>T	NP_001269607.1:p.Gly461=