Canonical Allele Identifier: CA368197318

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146637T>A (hg19) ; chr7:g.92517323T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517323T>A , CM000669.2:g.92517323T>A	GRCh38
NC_000007.13:g.92146637T>A , CM000669.1:g.92146637T>A	GRCh37
NC_000007.12:g.91984573T>A	NCBI36
NG_008341.1:g.16209A>T
NG_008341.2:g.16209A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1192A>T MANE Select	ENSP00000248633.4:p.Ile398Phe
ENST00000248633.8:c.1192A>T	ENSP00000248633.4:p.Ile398Phe
ENST00000422866.1:c.93A>T
ENST00000428214.5:c.1192A>T	ENSP00000394413.1:p.Ile398Phe
ENST00000438045.5:c.274-3356A>T	ENSP00000410438.1:n.274-3356A>T
ENST00000484913.5:n.1231A>T
NM_000466.2:c.1192A>T	NP_000457.1:p.Ile398Phe
NM_001282677.1:c.1192A>T	NP_001269606.1:p.Ile398Phe
NM_001282678.1:c.568A>T	NP_001269607.1:p.Ile190Phe
XR_242246.3:n.1288A>T
XM_017012319.2:c.-475A>T	XP_016867808.1:n.-475A>T
XR_001744808.2:n.302A>T
XR_242246.5:n.1239A>T
NM_000466.3:c.1192A>T MANE Select	NP_000457.1:p.Ile398Phe
NM_001282677.2:c.1192A>T	NP_001269606.1:p.Ile398Phe
NM_001282678.2:c.568A>T	NP_001269607.1:p.Ile190Phe