Canonical Allele Identifier: CA368182957

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504756C>T , CM000669.2:g.92504756C>T	GRCh38
NC_000007.13:g.92134070C>T , CM000669.1:g.92134070C>T	GRCh37
NC_000007.12:g.91972006C>T	NCBI36
NG_008341.1:g.28776G>A
NG_008341.2:g.28776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2047G>A MANE Select	ENSP00000248633.4:p.Val683Met
ENST00000248633.8:c.2047G>A	ENSP00000248633.4:p.Val683Met
ENST00000428214.5:c.1900+1492G>A	ENSP00000394413.1:n.1900+1492G>A
ENST00000438045.5:c.1081G>A	ENSP00000410438.1:p.Val361Met
ENST00000484913.5:n.2086G>A
ENST00000496420.5:n.1723G>A
NM_000466.2:c.2047G>A	NP_000457.1:p.Val683Met
NM_001282677.1:c.1900+1492G>A	NP_001269606.1:n.1900+1492G>A
NM_001282678.1:c.1423G>A	NP_001269607.1:p.Val475Met
XM_005250433.3:c.298G>A	XP_005250490.1:p.Val100Met
XR_242246.3:n.2143G>A
XM_017012319.2:c.298G>A	XP_016867808.1:p.Val100Met
XR_001744808.2:n.1074G>A
XR_242246.5:n.2094G>A
NM_000466.3:c.2047G>A MANE Select	NP_000457.1:p.Val683Met
NM_001282677.2:c.1900+1492G>A	NP_001269606.1:n.1900+1492G>A
NM_001282678.2:c.1423G>A	NP_001269607.1:p.Val475Met