Canonical Allele Identifier: CA456624189

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146815T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517501T>A , CM000669.2:g.92517501T>A	GRCh38
NC_000007.13:g.92146815T>A , CM000669.1:g.92146815T>A	GRCh37
NC_000007.12:g.91984751T>A	NCBI36
NG_008341.1:g.16031A>T
NG_008341.2:g.16031A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1014A>T MANE Select	ENSP00000248633.4:p.Leu338=
ENST00000248633.8:c.1014A>T	ENSP00000248633.4:p.Leu338=
ENST00000428214.5:c.1014A>T	ENSP00000394413.1:p.Leu338=
ENST00000438045.5:c.274-3534A>T	ENSP00000410438.1:n.274-3534A>T
ENST00000484913.5:n.1053A>T
NM_000466.2:c.1014A>T	NP_000457.1:p.Leu338=
NM_001282677.1:c.1014A>T	NP_001269606.1:p.Leu338=
NM_001282678.1:c.390A>T	NP_001269607.1:p.Leu130=
XR_242246.3:n.1110A>T
XM_017012319.2:c.-653A>T	XP_016867808.1:n.-653A>T
XR_001744808.2:n.124A>T
XR_242246.5:n.1061A>T
NM_000466.3:c.1014A>T MANE Select	NP_000457.1:p.Leu338=
NM_001282677.2:c.1014A>T	NP_001269606.1:p.Leu338=
NM_001282678.2:c.390A>T	NP_001269607.1:p.Leu130=