Canonical Allele Identifier: CA456482892

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131232G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501918G>T , CM000669.2:g.92501918G>T	GRCh38
NC_000007.13:g.92131232G>T , CM000669.1:g.92131232G>T	GRCh37
NC_000007.12:g.91969168G>T	NCBI36
NG_008341.1:g.31614C>A
NG_008341.2:g.31614C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2388C>A MANE Select	ENSP00000248633.4:p.Leu796=
ENST00000248633.8:c.2388C>A	ENSP00000248633.4:p.Leu796=
ENST00000428214.5:c.2217C>A	ENSP00000394413.1:p.Leu739=
ENST00000438045.5:c.1422C>A	ENSP00000410438.1:p.Leu474=
ENST00000484913.5:n.2427C>A
ENST00000496092.1:n.186C>A
ENST00000496420.5:n.2064C>A
NM_000466.2:c.2388C>A	NP_000457.1:p.Leu796=
NM_001282677.1:c.2217C>A	NP_001269606.1:p.Leu739=
NM_001282678.1:c.1764C>A	NP_001269607.1:p.Leu588=
XM_005250433.3:c.639C>A	XP_005250490.1:p.Leu213=
XR_242246.3:n.2484C>A
XM_017012319.2:c.639C>A	XP_016867808.1:p.Leu213=
XR_001744808.2:n.1415C>A
XR_242246.5:n.2435C>A
NM_000466.3:c.2388C>A MANE Select	NP_000457.1:p.Leu796=
NM_001282677.2:c.2217C>A	NP_001269606.1:p.Leu739=
NM_001282678.2:c.1764C>A	NP_001269607.1:p.Leu588=