Canonical Allele Identifier: CA146663

Gene: PEX1

Linked Data

• ClinVar Variation Id: 93111
• ClinVar RCV Id: RCV000078927 ; RCV000358779 ; RCV001200182 ; RCV001507135
• dbSNP Id: rs71560821
• ExAC: 7:92148336 G / C
• gnomAD v2: 7-92148336-G-C
• gnomAD v3: 7-92519022-G-C
• gnomAD v4: 7-92519022-G-C
• MyVariant Identifiers: chr7:g.92148336G>C (hg19) ; chr7:g.92519022G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519022G>C , CM000669.2:g.92519022G>C	GRCh38
NC_000007.13:g.92148336G>C , CM000669.1:g.92148336G>C	GRCh37
NC_000007.12:g.91986272G>C	NCBI36
NG_008341.1:g.14510C>G
NG_008341.2:g.14510C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.330C>G MANE Select	ENSP00000248633.4:p.Pro110=
ENST00000248633.8:c.330C>G	ENSP00000248633.4:p.Pro110=
ENST00000428214.5:c.330C>G	ENSP00000394413.1:p.Pro110=
ENST00000438045.5:c.273+3080C>G	ENSP00000410438.1:n.273+3080C>G
ENST00000484913.5:n.334C>G
NM_000466.2:c.330C>G	NP_000457.1:p.Pro110=
NM_001282677.1:c.330C>G	NP_001269606.1:p.Pro110=
NM_001282678.1:c.-330C>G	NP_001269607.1:n.-330C>G
XR_242246.3:n.426C>G
XR_242246.5:n.377C>G
NM_000466.3:c.330C>G MANE Select	NP_000457.1:p.Pro110=
NM_001282677.2:c.330C>G	NP_001269606.1:p.Pro110=
NM_001282678.2:c.-330C>G	NP_001269607.1:n.-330C>G