Canonical Allele Identifier: CA4341315

Gene: PEX1

Linked Data

• ClinVar Variation Id: 497965
• ClinVar RCV Id: RCV000593815 ; RCV001086000 ; RCV001277307 ; RCV003927907
• dbSNP Id: rs150667796
• ExAC: 7:92136386 C / T
• gnomAD v2: 7-92136386-C-T
• gnomAD v3: 7-92507072-C-T
• gnomAD v4: 7-92507072-C-T
• MyVariant Identifiers: chr7:g.92136386C>T (hg19) ; chr7:g.92507072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507072C>T , CM000669.2:g.92507072C>T	GRCh38
NC_000007.13:g.92136386C>T , CM000669.1:g.92136386C>T	GRCh37
NC_000007.12:g.91974322C>T	NCBI36
NG_008341.1:g.26460G>A
NG_008341.2:g.26460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1725G>A MANE Select	ENSP00000248633.4:p.Leu575=
ENST00000248633.8:c.1725G>A	ENSP00000248633.4:p.Leu575=
ENST00000422866.1:c.543G>A
ENST00000428214.5:c.1725G>A	ENSP00000394413.1:p.Leu575=
ENST00000438045.5:c.759G>A	ENSP00000410438.1:p.Leu253=
ENST00000484913.5:n.1764G>A
ENST00000496420.5:n.752G>A
NM_000466.2:c.1725G>A	NP_000457.1:p.Leu575=
NM_001282677.1:c.1725G>A	NP_001269606.1:p.Leu575=
NM_001282678.1:c.1101G>A	NP_001269607.1:p.Leu367=
XM_005250433.3:c.-25G>A	XP_005250490.1:n.-25G>A
XR_242246.3:n.1821G>A
XM_017012319.2:c.-25G>A	XP_016867808.1:n.-25G>A
XR_001744808.2:n.752G>A
XR_242246.5:n.1772G>A
NM_000466.3:c.1725G>A MANE Select	NP_000457.1:p.Leu575=
NM_001282677.2:c.1725G>A	NP_001269606.1:p.Leu575=
NM_001282678.2:c.1101G>A	NP_001269607.1:p.Leu367=