Canonical Allele Identifier: CA4341530

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1499093
• ClinVar RCV Id: RCV001999467
• dbSNP Id: rs781103940
• ExAC: 7:92146975 T / C
• gnomAD v2: 7-92146975-T-C
• gnomAD v3: 7-92517661-T-C
• gnomAD v4: 7-92517661-T-C
• MyVariant Identifiers: chr7:g.92146975T>C (hg19) ; chr7:g.92517661T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517661T>C , CM000669.2:g.92517661T>C	GRCh38
NC_000007.13:g.92146975T>C , CM000669.1:g.92146975T>C	GRCh37
NC_000007.12:g.91984911T>C	NCBI36
NG_008341.1:g.15871A>G
NG_008341.2:g.15871A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.854A>G MANE Select	ENSP00000248633.4:p.Asn285Ser
ENST00000248633.8:c.854A>G	ENSP00000248633.4:p.Asn285Ser
ENST00000428214.5:c.854A>G	ENSP00000394413.1:p.Asn285Ser
ENST00000438045.5:c.274-3694A>G	ENSP00000410438.1:n.274-3694A>G
ENST00000484913.5:n.893A>G
NM_000466.2:c.854A>G	NP_000457.1:p.Asn285Ser
NM_001282677.1:c.854A>G	NP_001269606.1:p.Asn285Ser
NM_001282678.1:c.230A>G	NP_001269607.1:p.Asn77Ser
XR_242246.3:n.950A>G
XR_242246.5:n.901A>G
NM_000466.3:c.854A>G MANE Select	NP_000457.1:p.Asn285Ser
NM_001282677.2:c.854A>G	NP_001269606.1:p.Asn285Ser
NM_001282678.2:c.230A>G	NP_001269607.1:p.Asn77Ser