Canonical Allele Identifier: CA4341243

Gene: PEX1

Linked Data

• ClinVar Variation Id: 758476
• ClinVar RCV Id: RCV000936202
• dbSNP Id: rs758706584
• ExAC: 7:92134122 G / A
• gnomAD v2: 7-92134122-G-A
• gnomAD v3: 7-92504808-G-A
• gnomAD v4: 7-92504808-G-A
• MyVariant Identifiers: chr7:g.92134122G>A (hg19) ; chr7:g.92504808G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504808G>A , CM000669.2:g.92504808G>A	GRCh38
NC_000007.13:g.92134122G>A , CM000669.1:g.92134122G>A	GRCh37
NC_000007.12:g.91972058G>A	NCBI36
NG_008341.1:g.28724C>T
NG_008341.2:g.28724C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1995C>T MANE Select	ENSP00000248633.4:p.Asp665=
ENST00000248633.8:c.1995C>T	ENSP00000248633.4:p.Asp665=
ENST00000428214.5:c.1900+1440C>T	ENSP00000394413.1:n.1900+1440C>T
ENST00000438045.5:c.1029C>T	ENSP00000410438.1:p.Asp343=
ENST00000484913.5:n.2034C>T
ENST00000496420.5:n.1671C>T
NM_000466.2:c.1995C>T	NP_000457.1:p.Asp665=
NM_001282677.1:c.1900+1440C>T	NP_001269606.1:n.1900+1440C>T
NM_001282678.1:c.1371C>T	NP_001269607.1:p.Asp457=
XM_005250433.3:c.246C>T	XP_005250490.1:p.Asp82=
XR_242246.3:n.2091C>T
XM_017012319.2:c.246C>T	XP_016867808.1:p.Asp82=
XR_001744808.2:n.1022C>T
XR_242246.5:n.2042C>T
NM_000466.3:c.1995C>T MANE Select	NP_000457.1:p.Asp665=
NM_001282677.2:c.1900+1440C>T	NP_001269606.1:n.1900+1440C>T
NM_001282678.2:c.1371C>T	NP_001269607.1:p.Asp457=