Canonical Allele Identifier: CA456482959

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131325G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502011G>C , CM000669.2:g.92502011G>C	GRCh38
NC_000007.13:g.92131325G>C , CM000669.1:g.92131325G>C	GRCh37
NC_000007.12:g.91969261G>C	NCBI36
NG_008341.1:g.31521C>G
NG_008341.2:g.31521C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2295C>G MANE Select	ENSP00000248633.4:p.Thr765=
ENST00000248633.8:c.2295C>G	ENSP00000248633.4:p.Thr765=
ENST00000428214.5:c.2124C>G	ENSP00000394413.1:p.Thr708=
ENST00000438045.5:c.1329C>G	ENSP00000410438.1:p.Thr443=
ENST00000484913.5:n.2334C>G
ENST00000496092.1:n.93C>G
ENST00000496420.5:n.1971C>G
NM_000466.2:c.2295C>G	NP_000457.1:p.Thr765=
NM_001282677.1:c.2124C>G	NP_001269606.1:p.Thr708=
NM_001282678.1:c.1671C>G	NP_001269607.1:p.Thr557=
XM_005250433.3:c.546C>G	XP_005250490.1:p.Thr182=
XR_242246.3:n.2391C>G
XM_017012319.2:c.546C>G	XP_016867808.1:p.Thr182=
XR_001744808.2:n.1322C>G
XR_242246.5:n.2342C>G
NM_000466.3:c.2295C>G MANE Select	NP_000457.1:p.Thr765=
NM_001282677.2:c.2124C>G	NP_001269606.1:p.Thr708=
NM_001282678.2:c.1671C>G	NP_001269607.1:p.Thr557=