Canonical Allele Identifier: CA456483429

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134212T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504898T>C , CM000669.2:g.92504898T>C	GRCh38
NC_000007.13:g.92134212T>C , CM000669.1:g.92134212T>C	GRCh37
NC_000007.12:g.91972148T>C	NCBI36
NG_008341.1:g.28634A>G
NG_008341.2:g.28634A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1905A>G MANE Select	ENSP00000248633.4:p.Lys635=
ENST00000248633.8:c.1905A>G	ENSP00000248633.4:p.Lys635=
ENST00000422866.1:c.723A>G
ENST00000428214.5:c.1900+1350A>G	ENSP00000394413.1:n.1900+1350A>G
ENST00000438045.5:c.939A>G	ENSP00000410438.1:p.Lys313=
ENST00000484913.5:n.1944A>G
ENST00000496420.5:n.1581A>G
NM_000466.2:c.1905A>G	NP_000457.1:p.Lys635=
NM_001282677.1:c.1900+1350A>G	NP_001269606.1:n.1900+1350A>G
NM_001282678.1:c.1281A>G	NP_001269607.1:p.Lys427=
XM_005250433.3:c.156A>G	XP_005250490.1:p.Lys52=
XR_242246.3:n.2001A>G
XM_017012319.2:c.156A>G	XP_016867808.1:p.Lys52=
XR_001744808.2:n.932A>G
XR_242246.5:n.1952A>G
NM_000466.3:c.1905A>G MANE Select	NP_000457.1:p.Lys635=
NM_001282677.2:c.1900+1350A>G	NP_001269606.1:n.1900+1350A>G
NM_001282678.2:c.1281A>G	NP_001269607.1:p.Lys427=