Canonical Allele Identifier: CA368177770

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2322A>C MANE Select	ENSP00000248633.4:p.Lys774Asn
ENST00000248633.8:c.2322A>C	ENSP00000248633.4:p.Lys774Asn
ENST00000428214.5:c.2151A>C	ENSP00000394413.1:p.Lys717Asn
ENST00000438045.5:c.1356A>C	ENSP00000410438.1:p.Lys452Asn
ENST00000484913.5:n.2361A>C
ENST00000496092.1:n.120A>C
ENST00000496420.5:n.1998A>C
NM_000466.2:c.2322A>C	NP_000457.1:p.Lys774Asn
NM_001282677.1:c.2151A>C	NP_001269606.1:p.Lys717Asn
NM_001282678.1:c.1698A>C	NP_001269607.1:p.Lys566Asn
XM_005250433.3:c.573A>C	XP_005250490.1:p.Lys191Asn
XR_242246.3:n.2418A>C
XM_017012319.2:c.573A>C	XP_016867808.1:p.Lys191Asn
XR_001744808.2:n.1349A>C
XR_242246.5:n.2369A>C
NM_000466.3:c.2322A>C MANE Select	NP_000457.1:p.Lys774Asn
NM_001282677.2:c.2151A>C	NP_001269606.1:p.Lys717Asn
NM_001282678.2:c.1698A>C	NP_001269607.1:p.Lys566Asn