Canonical Allele Identifier: CA456624501

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1621064
• ClinVar RCV Id: RCV002091840
• dbSNP Id: rs1476909174
• gnomAD v2: 7-92147178-T-C
• gnomAD v3: 7-92517864-T-C
• gnomAD v4: 7-92517864-T-C
• MyVariant Identifiers: chr7:g.92147178T>C (hg19) ; chr7:g.92517864T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517864T>C , CM000669.2:g.92517864T>C	GRCh38
NC_000007.13:g.92147178T>C , CM000669.1:g.92147178T>C	GRCh37
NC_000007.12:g.91985114T>C	NCBI36
NG_008341.1:g.15668A>G
NG_008341.2:g.15668A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.651A>G MANE Select	ENSP00000248633.4:p.Gln217=
ENST00000248633.8:c.651A>G	ENSP00000248633.4:p.Gln217=
ENST00000428214.5:c.651A>G	ENSP00000394413.1:p.Gln217=
ENST00000438045.5:c.274-3897A>G	ENSP00000410438.1:n.274-3897A>G
ENST00000484913.5:n.690A>G
NM_000466.2:c.651A>G	NP_000457.1:p.Gln217=
NM_001282677.1:c.651A>G	NP_001269606.1:p.Gln217=
NM_001282678.1:c.27A>G	NP_001269607.1:p.Gln9=
XR_242246.3:n.747A>G
XR_242246.5:n.698A>G
NM_000466.3:c.651A>G MANE Select	NP_000457.1:p.Gln217=
NM_001282677.2:c.651A>G	NP_001269606.1:p.Gln217=
NM_001282678.2:c.27A>G	NP_001269607.1:p.Gln9=