Canonical Allele Identifier: CA368184197

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134203T>G (hg19) ; chr7:g.92504889T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504889T>G , CM000669.2:g.92504889T>G	GRCh38
NC_000007.13:g.92134203T>G , CM000669.1:g.92134203T>G	GRCh37
NC_000007.12:g.91972139T>G	NCBI36
NG_008341.1:g.28643A>C
NG_008341.2:g.28643A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1914A>C MANE Select	ENSP00000248633.4:p.Glu638Asp
ENST00000248633.8:c.1914A>C	ENSP00000248633.4:p.Glu638Asp
ENST00000422866.1:c.732A>C
ENST00000428214.5:c.1900+1359A>C	ENSP00000394413.1:n.1900+1359A>C
ENST00000438045.5:c.948A>C	ENSP00000410438.1:p.Glu316Asp
ENST00000484913.5:n.1953A>C
ENST00000496420.5:n.1590A>C
NM_000466.2:c.1914A>C	NP_000457.1:p.Glu638Asp
NM_001282677.1:c.1900+1359A>C	NP_001269606.1:n.1900+1359A>C
NM_001282678.1:c.1290A>C	NP_001269607.1:p.Glu430Asp
XM_005250433.3:c.165A>C	XP_005250490.1:p.Glu55Asp
XR_242246.3:n.2010A>C
XM_017012319.2:c.165A>C	XP_016867808.1:p.Glu55Asp
XR_001744808.2:n.941A>C
XR_242246.5:n.1961A>C
NM_000466.3:c.1914A>C MANE Select	NP_000457.1:p.Glu638Asp
NM_001282677.2:c.1900+1359A>C	NP_001269606.1:n.1900+1359A>C
NM_001282678.2:c.1290A>C	NP_001269607.1:p.Glu430Asp