Canonical Allele Identifier: CA4341584

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2269425
• ClinVar RCV Id: RCV002799309
• dbSNP Id: rs765240855
• ExAC: 7:92147320 T / A
• gnomAD v2: 7-92147320-T-A
• gnomAD v3: 7-92518006-T-A
• gnomAD v4: 7-92518006-T-A
• MyVariant Identifiers: chr7:g.92147320T>A (hg19) ; chr7:g.92518006T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518006T>A , CM000669.2:g.92518006T>A	GRCh38
NC_000007.13:g.92147320T>A , CM000669.1:g.92147320T>A	GRCh37
NC_000007.12:g.91985256T>A	NCBI36
NG_008341.1:g.15526A>T
NG_008341.2:g.15526A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.509A>T MANE Select	ENSP00000248633.4:p.Glu170Val
ENST00000248633.8:c.509A>T	ENSP00000248633.4:p.Glu170Val
ENST00000428214.5:c.509A>T	ENSP00000394413.1:p.Glu170Val
ENST00000438045.5:c.274-4039A>T	ENSP00000410438.1:n.274-4039A>T
ENST00000484913.5:n.548A>T
NM_000466.2:c.509A>T	NP_000457.1:p.Glu170Val
NM_001282677.1:c.509A>T	NP_001269606.1:p.Glu170Val
NM_001282678.1:c.-116A>T	NP_001269607.1:n.-116A>T
XR_242246.3:n.605A>T
XR_242246.5:n.556A>T
NM_000466.3:c.509A>T MANE Select	NP_000457.1:p.Glu170Val
NM_001282677.2:c.509A>T	NP_001269606.1:p.Glu170Val
NM_001282678.2:c.-116A>T	NP_001269607.1:n.-116A>T