Canonical Allele Identifier: CA456483491

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92135614T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506300T>G , CM000669.2:g.92506300T>G	GRCh38
NC_000007.13:g.92135614T>G , CM000669.1:g.92135614T>G	GRCh37
NC_000007.12:g.91973550T>G	NCBI36
NG_008341.1:g.27232A>C
NG_008341.2:g.27232A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1848A>C MANE Select	ENSP00000248633.4:p.Ala616=
ENST00000248633.8:c.1848A>C	ENSP00000248633.4:p.Ala616=
ENST00000422866.1:c.666A>C
ENST00000428214.5:c.1848A>C	ENSP00000394413.1:p.Ala616=
ENST00000438045.5:c.882A>C	ENSP00000410438.1:p.Ala294=
ENST00000484913.5:n.1887A>C
ENST00000496420.5:n.1524A>C
NM_000466.2:c.1848A>C	NP_000457.1:p.Ala616=
NM_001282677.1:c.1848A>C	NP_001269606.1:p.Ala616=
NM_001282678.1:c.1224A>C	NP_001269607.1:p.Ala408=
XM_005250433.3:c.99A>C	XP_005250490.1:p.Ala33=
XR_242246.3:n.1944A>C
XM_017012319.2:c.99A>C	XP_016867808.1:p.Ala33=
XR_001744808.2:n.875A>C
XR_242246.5:n.1895A>C
NM_000466.3:c.1848A>C MANE Select	NP_000457.1:p.Ala616=
NM_001282677.2:c.1848A>C	NP_001269606.1:p.Ala616=
NM_001282678.2:c.1224A>C	NP_001269607.1:p.Ala408=