Canonical Allele Identifier: CA456483643

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92138654C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92509340C>A , CM000669.2:g.92509340C>A	GRCh38
NC_000007.13:g.92138654C>A , CM000669.1:g.92138654C>A	GRCh37
NC_000007.12:g.91976590C>A	NCBI36
NG_008341.1:g.24192G>T
NG_008341.2:g.24192G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1659G>T MANE Select	ENSP00000248633.4:p.Leu553=
ENST00000248633.8:c.1659G>T	ENSP00000248633.4:p.Leu553=
ENST00000422866.1:c.488+1604G>T
ENST00000428214.5:c.1659G>T	ENSP00000394413.1:p.Leu553=
ENST00000438045.5:c.693G>T	ENSP00000410438.1:p.Leu231=
ENST00000484913.5:n.1698G>T
NM_000466.2:c.1659G>T	NP_000457.1:p.Leu553=
NM_001282677.1:c.1659G>T	NP_001269606.1:p.Leu553=
NM_001282678.1:c.1035G>T	NP_001269607.1:p.Leu345=
XM_005250433.3:c.-80+1604G>T	XP_005250490.1:n.-80+1604G>T
XR_242246.3:n.1755G>T
XM_017012319.2:c.-80+1604G>T	XP_016867808.1:n.-80+1604G>T
XR_001744808.2:n.697+1604G>T
XR_242246.5:n.1706G>T
NM_000466.3:c.1659G>T MANE Select	NP_000457.1:p.Leu553=
NM_001282677.2:c.1659G>T	NP_001269606.1:p.Leu553=
NM_001282678.2:c.1035G>T	NP_001269607.1:p.Leu345=