Canonical Allele Identifier: CA456624290

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92147088A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517774A>C , CM000669.2:g.92517774A>C	GRCh38
NC_000007.13:g.92147088A>C , CM000669.1:g.92147088A>C	GRCh37
NC_000007.12:g.91985024A>C	NCBI36
NG_008341.1:g.15758T>G
NG_008341.2:g.15758T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.741T>G MANE Select	ENSP00000248633.4:p.Thr247=
ENST00000248633.8:c.741T>G	ENSP00000248633.4:p.Thr247=
ENST00000428214.5:c.741T>G	ENSP00000394413.1:p.Thr247=
ENST00000438045.5:c.274-3807T>G	ENSP00000410438.1:n.274-3807T>G
ENST00000484913.5:n.780T>G
NM_000466.2:c.741T>G	NP_000457.1:p.Thr247=
NM_001282677.1:c.741T>G	NP_001269606.1:p.Thr247=
NM_001282678.1:c.117T>G	NP_001269607.1:p.Thr39=
XR_242246.3:n.837T>G
XR_242246.5:n.788T>G
NM_000466.3:c.741T>G MANE Select	NP_000457.1:p.Thr247=
NM_001282677.2:c.741T>G	NP_001269606.1:p.Thr247=
NM_001282678.2:c.117T>G	NP_001269607.1:p.Thr39=