Canonical Allele Identifier: CA456481743

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496729-G-T
• MyVariant Identifiers: chr7:g.92126043G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496729G>T , CM000669.2:g.92496729G>T	GRCh38
NC_000007.13:g.92126043G>T , CM000669.1:g.92126043G>T	GRCh37
NC_000007.12:g.91963979G>T	NCBI36
NG_008341.1:g.36803C>A
NG_008341.2:g.36803C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2767C>A MANE Select	ENSP00000248633.4:p.Arg923=
ENST00000248633.8:c.2767C>A	ENSP00000248633.4:p.Arg923=
ENST00000428214.5:c.2596C>A	ENSP00000394413.1:p.Arg866=
ENST00000438045.5:c.1801C>A	ENSP00000410438.1:p.Arg601=
ENST00000484913.5:n.2806C>A
ENST00000496420.5:n.2659C>A
NM_000466.2:c.2767C>A	NP_000457.1:p.Arg923=
NM_001282677.1:c.2596C>A	NP_001269606.1:p.Arg866=
NM_001282678.1:c.2143C>A	NP_001269607.1:p.Arg715=
XM_005250433.3:c.1018C>A	XP_005250490.1:p.Arg340=
XR_242246.3:n.2863C>A
XM_017012319.2:c.1018C>A	XP_016867808.1:p.Arg340=
XR_001744808.2:n.1794C>A
XR_242246.5:n.2814C>A
NM_000466.3:c.2767C>A MANE Select	NP_000457.1:p.Arg923=
NM_001282677.2:c.2596C>A	NP_001269606.1:p.Arg866=
NM_001282678.2:c.2143C>A	NP_001269607.1:p.Arg715=