Canonical Allele Identifier: CA456482944

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131298T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501984T>C , CM000669.2:g.92501984T>C	GRCh38
NC_000007.13:g.92131298T>C , CM000669.1:g.92131298T>C	GRCh37
NC_000007.12:g.91969234T>C	NCBI36
NG_008341.1:g.31548A>G
NG_008341.2:g.31548A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2322A>G MANE Select	ENSP00000248633.4:p.Lys774=
ENST00000248633.8:c.2322A>G	ENSP00000248633.4:p.Lys774=
ENST00000428214.5:c.2151A>G	ENSP00000394413.1:p.Lys717=
ENST00000438045.5:c.1356A>G	ENSP00000410438.1:p.Lys452=
ENST00000484913.5:n.2361A>G
ENST00000496092.1:n.120A>G
ENST00000496420.5:n.1998A>G
NM_000466.2:c.2322A>G	NP_000457.1:p.Lys774=
NM_001282677.1:c.2151A>G	NP_001269606.1:p.Lys717=
NM_001282678.1:c.1698A>G	NP_001269607.1:p.Lys566=
XM_005250433.3:c.573A>G	XP_005250490.1:p.Lys191=
XR_242246.3:n.2418A>G
XM_017012319.2:c.573A>G	XP_016867808.1:p.Lys191=
XR_001744808.2:n.1349A>G
XR_242246.5:n.2369A>G
NM_000466.3:c.2322A>G MANE Select	NP_000457.1:p.Lys774=
NM_001282677.2:c.2151A>G	NP_001269606.1:p.Lys717=
NM_001282678.2:c.1698A>G	NP_001269607.1:p.Lys566=