Canonical Allele Identifier: CA4341583

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2154298
• ClinVar RCV Id: RCV003069208
• dbSNP Id: rs761613577
• ExAC: 7:92147314 T / A
• gnomAD v2: 7-92147314-T-A
• gnomAD v3: 7-92518000-T-A
• gnomAD v4: 7-92518000-T-A
• MyVariant Identifiers: chr7:g.92147314T>A (hg19) ; chr7:g.92518000T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518000T>A , CM000669.2:g.92518000T>A	GRCh38
NC_000007.13:g.92147314T>A , CM000669.1:g.92147314T>A	GRCh37
NC_000007.12:g.91985250T>A	NCBI36
NG_008341.1:g.15532A>T
NG_008341.2:g.15532A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.515A>T MANE Select	ENSP00000248633.4:p.Asp172Val
ENST00000248633.8:c.515A>T	ENSP00000248633.4:p.Asp172Val
ENST00000428214.5:c.515A>T	ENSP00000394413.1:p.Asp172Val
ENST00000438045.5:c.274-4033A>T	ENSP00000410438.1:n.274-4033A>T
ENST00000484913.5:n.554A>T
NM_000466.2:c.515A>T	NP_000457.1:p.Asp172Val
NM_001282677.1:c.515A>T	NP_001269606.1:p.Asp172Val
NM_001282678.1:c.-110A>T	NP_001269607.1:n.-110A>T
XR_242246.3:n.611A>T
XR_242246.5:n.562A>T
NM_000466.3:c.515A>T MANE Select	NP_000457.1:p.Asp172Val
NM_001282677.2:c.515A>T	NP_001269606.1:p.Asp172Val
NM_001282678.2:c.-110A>T	NP_001269607.1:n.-110A>T