Canonical Allele Identifier: CA456482890

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131229A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501915A>C , CM000669.2:g.92501915A>C	GRCh38
NC_000007.13:g.92131229A>C , CM000669.1:g.92131229A>C	GRCh37
NC_000007.12:g.91969165A>C	NCBI36
NG_008341.1:g.31617T>G
NG_008341.2:g.31617T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2391T>G MANE Select	ENSP00000248633.4:p.Ser797=
ENST00000248633.8:c.2391T>G	ENSP00000248633.4:p.Ser797=
ENST00000428214.5:c.2220T>G	ENSP00000394413.1:p.Ser740=
ENST00000438045.5:c.1425T>G	ENSP00000410438.1:p.Ser475=
ENST00000484913.5:n.2430T>G
ENST00000496092.1:n.189T>G
ENST00000496420.5:n.2067T>G
NM_000466.2:c.2391T>G	NP_000457.1:p.Ser797=
NM_001282677.1:c.2220T>G	NP_001269606.1:p.Ser740=
NM_001282678.1:c.1767T>G	NP_001269607.1:p.Ser589=
XM_005250433.3:c.642T>G	XP_005250490.1:p.Ser214=
XR_242246.3:n.2487T>G
XM_017012319.2:c.642T>G	XP_016867808.1:p.Ser214=
XR_001744808.2:n.1418T>G
XR_242246.5:n.2438T>G
NM_000466.3:c.2391T>G MANE Select	NP_000457.1:p.Ser797=
NM_001282677.2:c.2220T>G	NP_001269606.1:p.Ser740=
NM_001282678.2:c.1767T>G	NP_001269607.1:p.Ser589=