Canonical Allele Identifier: CA4341527

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517626T>C , CM000669.2:g.92517626T>C	GRCh38
NC_000007.13:g.92146940T>C , CM000669.1:g.92146940T>C	GRCh37
NC_000007.12:g.91984876T>C	NCBI36
NG_008341.1:g.15906A>G
NG_008341.2:g.15906A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.889A>G MANE Select	NP_000457.1:p.Ile297Val
ENST00000248633.9:c.889A>G MANE Select	ENSP00000248633.4:p.Ile297Val
NM_000466.2:c.889A>G	NP_000457.1:p.Ile297Val
NM_001282677.1:c.889A>G	NP_001269606.1:p.Ile297Val
NM_001282677.2:c.889A>G	NP_001269606.1:p.Ile297Val
NM_001282678.1:c.265A>G	NP_001269607.1:p.Ile89Val
NM_001282678.2:c.265A>G	NP_001269607.1:p.Ile89Val
ENST00000248633.8:c.889A>G	ENSP00000248633.4:p.Ile297Val
ENST00000428214.5:c.889A>G	ENSP00000394413.1:p.Ile297Val
ENST00000438045.5:c.274-3659A>G	ENSP00000410438.1:n.274-3659A>G
ENST00000484913.5:n.928A>G
XR_242246.3:n.985A>G
XR_242246.5:n.936A>G