Canonical Allele Identifier: CA368184032

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134184C>T (hg19) ; chr7:g.92504870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504870C>T , CM000669.2:g.92504870C>T	GRCh38
NC_000007.13:g.92134184C>T , CM000669.1:g.92134184C>T	GRCh37
NC_000007.12:g.91972120C>T	NCBI36
NG_008341.1:g.28662G>A
NG_008341.2:g.28662G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1933G>A MANE Select	ENSP00000248633.4:p.Glu645Lys
ENST00000248633.8:c.1933G>A	ENSP00000248633.4:p.Glu645Lys
ENST00000428214.5:c.1900+1378G>A	ENSP00000394413.1:n.1900+1378G>A
ENST00000438045.5:c.967G>A	ENSP00000410438.1:p.Glu323Lys
ENST00000484913.5:n.1972G>A
ENST00000496420.5:n.1609G>A
NM_000466.2:c.1933G>A	NP_000457.1:p.Glu645Lys
NM_001282677.1:c.1900+1378G>A	NP_001269606.1:n.1900+1378G>A
NM_001282678.1:c.1309G>A	NP_001269607.1:p.Glu437Lys
XM_005250433.3:c.184G>A	XP_005250490.1:p.Glu62Lys
XR_242246.3:n.2029G>A
XM_017012319.2:c.184G>A	XP_016867808.1:p.Glu62Lys
XR_001744808.2:n.960G>A
XR_242246.5:n.1980G>A
NM_000466.3:c.1933G>A MANE Select	NP_000457.1:p.Glu645Lys
NM_001282677.2:c.1900+1378G>A	NP_001269606.1:n.1900+1378G>A
NM_001282678.2:c.1309G>A	NP_001269607.1:p.Glu437Lys