Canonical Allele Identifier: CA368198322

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146765G>T (hg19) ; chr7:g.92517451G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517451G>T , CM000669.2:g.92517451G>T	GRCh38
NC_000007.13:g.92146765G>T , CM000669.1:g.92146765G>T	GRCh37
NC_000007.12:g.91984701G>T	NCBI36
NG_008341.1:g.16081C>A
NG_008341.2:g.16081C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1064C>A MANE Select	ENSP00000248633.4:p.Pro355His
ENST00000248633.8:c.1064C>A	ENSP00000248633.4:p.Pro355His
ENST00000428214.5:c.1064C>A	ENSP00000394413.1:p.Pro355His
ENST00000438045.5:c.274-3484C>A	ENSP00000410438.1:n.274-3484C>A
ENST00000484913.5:n.1103C>A
NM_000466.2:c.1064C>A	NP_000457.1:p.Pro355His
NM_001282677.1:c.1064C>A	NP_001269606.1:p.Pro355His
NM_001282678.1:c.440C>A	NP_001269607.1:p.Pro147His
XR_242246.3:n.1160C>A
XM_017012319.2:c.-603C>A	XP_016867808.1:n.-603C>A
XR_001744808.2:n.174C>A
XR_242246.5:n.1111C>A
NM_000466.3:c.1064C>A MANE Select	NP_000457.1:p.Pro355His
NM_001282677.2:c.1064C>A	NP_001269606.1:p.Pro355His
NM_001282678.2:c.440C>A	NP_001269607.1:p.Pro147His