Canonical Allele Identifier: CA456482969

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131355A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502041A>G , CM000669.2:g.92502041A>G	GRCh38
NC_000007.13:g.92131355A>G , CM000669.1:g.92131355A>G	GRCh37
NC_000007.12:g.91969291A>G	NCBI36
NG_008341.1:g.31491T>C
NG_008341.2:g.31491T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2265T>C MANE Select	ENSP00000248633.4:p.Asn755=
ENST00000248633.8:c.2265T>C	ENSP00000248633.4:p.Asn755=
ENST00000428214.5:c.2094T>C	ENSP00000394413.1:p.Asn698=
ENST00000438045.5:c.1299T>C	ENSP00000410438.1:p.Asn433=
ENST00000484913.5:n.2304T>C
ENST00000496092.1:n.63T>C
ENST00000496420.5:n.1941T>C
NM_000466.2:c.2265T>C	NP_000457.1:p.Asn755=
NM_001282677.1:c.2094T>C	NP_001269606.1:p.Asn698=
NM_001282678.1:c.1641T>C	NP_001269607.1:p.Asn547=
XM_005250433.3:c.516T>C	XP_005250490.1:p.Asn172=
XR_242246.3:n.2361T>C
XM_017012319.2:c.516T>C	XP_016867808.1:p.Asn172=
XR_001744808.2:n.1292T>C
XR_242246.5:n.2312T>C
NM_000466.3:c.2265T>C MANE Select	NP_000457.1:p.Asn755=
NM_001282677.2:c.2094T>C	NP_001269606.1:p.Asn698=
NM_001282678.2:c.1641T>C	NP_001269607.1:p.Asn547=