Canonical Allele Identifier: CA456483531

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92136317T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507003T>G , CM000669.2:g.92507003T>G	GRCh38
NC_000007.13:g.92136317T>G , CM000669.1:g.92136317T>G	GRCh37
NC_000007.12:g.91974253T>G	NCBI36
NG_008341.1:g.26529A>C
NG_008341.2:g.26529A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1794A>C MANE Select	ENSP00000248633.4:p.Thr598=
ENST00000248633.8:c.1794A>C	ENSP00000248633.4:p.Thr598=
ENST00000422866.1:c.612A>C
ENST00000428214.5:c.1794A>C	ENSP00000394413.1:p.Thr598=
ENST00000438045.5:c.828A>C	ENSP00000410438.1:p.Thr276=
ENST00000484913.5:n.1833A>C
ENST00000496420.5:n.821A>C
NM_000466.2:c.1794A>C	NP_000457.1:p.Thr598=
NM_001282677.1:c.1794A>C	NP_001269606.1:p.Thr598=
NM_001282678.1:c.1170A>C	NP_001269607.1:p.Thr390=
XM_005250433.3:c.45A>C	XP_005250490.1:p.Thr15=
XR_242246.3:n.1890A>C
XM_017012319.2:c.45A>C	XP_016867808.1:p.Thr15=
XR_001744808.2:n.821A>C
XR_242246.5:n.1841A>C
NM_000466.3:c.1794A>C MANE Select	NP_000457.1:p.Thr598=
NM_001282677.2:c.1794A>C	NP_001269606.1:p.Thr598=
NM_001282678.2:c.1170A>C	NP_001269607.1:p.Thr390=