Canonical Allele Identifier: CA368199804

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2836115
• ClinVar RCV Id: RCV003758351
• COSMIC: COSM5903657
• MyVariant Identifiers: chr7:g.92147035C>T (hg19) ; chr7:g.92517721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517721C>T , CM000669.2:g.92517721C>T	GRCh38
NC_000007.13:g.92147035C>T , CM000669.1:g.92147035C>T	GRCh37
NC_000007.12:g.91984971C>T	NCBI36
NG_008341.1:g.15811G>A
NG_008341.2:g.15811G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.794G>A MANE Select	ENSP00000248633.4:p.Trp265Ter
ENST00000248633.8:c.794G>A	ENSP00000248633.4:p.Trp265Ter
ENST00000428214.5:c.794G>A	ENSP00000394413.1:p.Trp265Ter
ENST00000438045.5:c.274-3754G>A	ENSP00000410438.1:n.274-3754G>A
ENST00000484913.5:n.833G>A
NM_000466.2:c.794G>A	NP_000457.1:p.Trp265Ter
NM_001282677.1:c.794G>A	NP_001269606.1:p.Trp265Ter
NM_001282678.1:c.170G>A	NP_001269607.1:p.Trp57Ter
XR_242246.3:n.890G>A
XR_242246.5:n.841G>A
NM_000466.3:c.794G>A MANE Select	NP_000457.1:p.Trp265Ter
NM_001282677.2:c.794G>A	NP_001269606.1:p.Trp265Ter
NM_001282678.2:c.170G>A	NP_001269607.1:p.Trp57Ter