Canonical Allele Identifier: CA368173346

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92129047C>T (hg19) ; chr7:g.92499733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499733C>T , CM000669.2:g.92499733C>T	GRCh38
NC_000007.13:g.92129047C>T , CM000669.1:g.92129047C>T	GRCh37
NC_000007.12:g.91966983C>T	NCBI36
NG_008341.1:g.33799G>A
NG_008341.2:g.33799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2689G>A MANE Select	ENSP00000248633.4:p.Glu897Lys
ENST00000248633.8:c.2689G>A	ENSP00000248633.4:p.Glu897Lys
ENST00000428214.5:c.2518G>A	ENSP00000394413.1:p.Glu840Lys
ENST00000438045.5:c.1723G>A	ENSP00000410438.1:p.Glu575Lys
ENST00000484913.5:n.2728G>A
ENST00000496420.5:n.2581G>A
NM_000466.2:c.2689G>A	NP_000457.1:p.Glu897Lys
NM_001282677.1:c.2518G>A	NP_001269606.1:p.Glu840Lys
NM_001282678.1:c.2065G>A	NP_001269607.1:p.Glu689Lys
XM_005250433.3:c.940G>A	XP_005250490.1:p.Glu314Lys
XR_242246.3:n.2785G>A
XM_017012319.2:c.940G>A	XP_016867808.1:p.Glu314Lys
XR_001744808.2:n.1716G>A
XR_242246.5:n.2736G>A
NM_000466.3:c.2689G>A MANE Select	NP_000457.1:p.Glu897Lys
NM_001282677.2:c.2518G>A	NP_001269606.1:p.Glu840Lys
NM_001282678.2:c.2065G>A	NP_001269607.1:p.Glu689Lys