Canonical Allele Identifier: CA4341054

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1160262
• ClinVar RCV Id: RCV001504324
• dbSNP Id: rs748602242
• ExAC: 7:92129021 G / C
• gnomAD v2: 7-92129021-G-C
• gnomAD v4: 7-92499707-G-C
• MyVariant Identifiers: chr7:g.92129021G>C (hg19) ; chr7:g.92499707G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499707G>C , CM000669.2:g.92499707G>C	GRCh38
NC_000007.13:g.92129021G>C , CM000669.1:g.92129021G>C	GRCh37
NC_000007.12:g.91966957G>C	NCBI36
NG_008341.1:g.33825C>G
NG_008341.2:g.33825C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2715C>G MANE Select	ENSP00000248633.4:p.Val905=
ENST00000248633.8:c.2715C>G	ENSP00000248633.4:p.Val905=
ENST00000428214.5:c.2544C>G	ENSP00000394413.1:p.Val848=
ENST00000438045.5:c.1749C>G	ENSP00000410438.1:p.Val583=
ENST00000484913.5:n.2754C>G
ENST00000496420.5:n.2607C>G
NM_000466.2:c.2715C>G	NP_000457.1:p.Val905=
NM_001282677.1:c.2544C>G	NP_001269606.1:p.Val848=
NM_001282678.1:c.2091C>G	NP_001269607.1:p.Val697=
XM_005250433.3:c.966C>G	XP_005250490.1:p.Val322=
XR_242246.3:n.2811C>G
XM_017012319.2:c.966C>G	XP_016867808.1:p.Val322=
XR_001744808.2:n.1742C>G
XR_242246.5:n.2762C>G
NM_000466.3:c.2715C>G MANE Select	NP_000457.1:p.Val905=
NM_001282677.2:c.2544C>G	NP_001269606.1:p.Val848=
NM_001282678.2:c.2091C>G	NP_001269607.1:p.Val697=