Canonical Allele Identifier: CA456482020

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499812-G-T
• MyVariant Identifiers: chr7:g.92129126G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499812G>T , CM000669.2:g.92499812G>T	GRCh38
NC_000007.13:g.92129126G>T , CM000669.1:g.92129126G>T	GRCh37
NC_000007.12:g.91967062G>T	NCBI36
NG_008341.1:g.33720C>A
NG_008341.2:g.33720C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2610C>A MANE Select	ENSP00000248633.4:p.Pro870=
ENST00000248633.8:c.2610C>A	ENSP00000248633.4:p.Pro870=
ENST00000428214.5:c.2439C>A	ENSP00000394413.1:p.Pro813=
ENST00000438045.5:c.1644C>A	ENSP00000410438.1:p.Pro548=
ENST00000484913.5:n.2649C>A
ENST00000496420.5:n.2502C>A
NM_000466.2:c.2610C>A	NP_000457.1:p.Pro870=
NM_001282677.1:c.2439C>A	NP_001269606.1:p.Pro813=
NM_001282678.1:c.1986C>A	NP_001269607.1:p.Pro662=
XM_005250433.3:c.861C>A	XP_005250490.1:p.Pro287=
XR_242246.3:n.2706C>A
XM_017012319.2:c.861C>A	XP_016867808.1:p.Pro287=
XR_001744808.2:n.1637C>A
XR_242246.5:n.2657C>A
NM_000466.3:c.2610C>A MANE Select	NP_000457.1:p.Pro870=
NM_001282677.2:c.2439C>A	NP_001269606.1:p.Pro813=
NM_001282678.2:c.1986C>A	NP_001269607.1:p.Pro662=