Canonical Allele Identifier: CA456482950

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2025354
• ClinVar RCV Id: RCV002880515
• MyVariant Identifiers: chr7:g.92131310C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501996C>T , CM000669.2:g.92501996C>T	GRCh38
NC_000007.13:g.92131310C>T , CM000669.1:g.92131310C>T	GRCh37
NC_000007.12:g.91969246C>T	NCBI36
NG_008341.1:g.31536G>A
NG_008341.2:g.31536G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2310G>A MANE Select	ENSP00000248633.4:p.Gln770=
ENST00000248633.8:c.2310G>A	ENSP00000248633.4:p.Gln770=
ENST00000428214.5:c.2139G>A	ENSP00000394413.1:p.Gln713=
ENST00000438045.5:c.1344G>A	ENSP00000410438.1:p.Gln448=
ENST00000484913.5:n.2349G>A
ENST00000496092.1:n.108G>A
ENST00000496420.5:n.1986G>A
NM_000466.2:c.2310G>A	NP_000457.1:p.Gln770=
NM_001282677.1:c.2139G>A	NP_001269606.1:p.Gln713=
NM_001282678.1:c.1686G>A	NP_001269607.1:p.Gln562=
XM_005250433.3:c.561G>A	XP_005250490.1:p.Gln187=
XR_242246.3:n.2406G>A
XM_017012319.2:c.561G>A	XP_016867808.1:p.Gln187=
XR_001744808.2:n.1337G>A
XR_242246.5:n.2357G>A
NM_000466.3:c.2310G>A MANE Select	NP_000457.1:p.Gln770=
NM_001282677.2:c.2139G>A	NP_001269606.1:p.Gln713=
NM_001282678.2:c.1686G>A	NP_001269607.1:p.Gln562=