Canonical Allele Identifier: CA456482018

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499812-G-A
• COSMIC: COSM3642267
• MyVariant Identifiers: chr7:g.92129126G>A (hg19)

Genomic Alleles

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

Transcript Alleles

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