Canonical Allele Identifier: CA368171290

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496776C>T , CM000669.2:g.92496776C>T	GRCh38
NC_000007.13:g.92126090C>T , CM000669.1:g.92126090C>T	GRCh37
NC_000007.12:g.91964026C>T	NCBI36
NG_008341.1:g.36756G>A
NG_008341.2:g.36756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2720G>A MANE Select	ENSP00000248633.4:p.Gly907Glu
ENST00000248633.8:c.2720G>A	ENSP00000248633.4:p.Gly907Glu
ENST00000428214.5:c.2549G>A	ENSP00000394413.1:p.Gly850Glu
ENST00000438045.5:c.1754G>A	ENSP00000410438.1:p.Gly585Glu
ENST00000484913.5:n.2759G>A
ENST00000496420.5:n.2612G>A
NM_000466.2:c.2720G>A	NP_000457.1:p.Gly907Glu
NM_001282677.1:c.2549G>A	NP_001269606.1:p.Gly850Glu
NM_001282678.1:c.2096G>A	NP_001269607.1:p.Gly699Glu
XM_005250433.3:c.971G>A	XP_005250490.1:p.Gly324Glu
XR_242246.3:n.2816G>A
XM_017012319.2:c.971G>A	XP_016867808.1:p.Gly324Glu
XR_001744808.2:n.1747G>A
XR_242246.5:n.2767G>A
NM_000466.3:c.2720G>A MANE Select	NP_000457.1:p.Gly907Glu
NM_001282677.2:c.2549G>A	NP_001269606.1:p.Gly850Glu
NM_001282678.2:c.2096G>A	NP_001269607.1:p.Gly699Glu