Canonical Allele Identifier: CA4341144

Gene: PEX1

Linked Data

• dbSNP Id: rs755913199
• ExAC: 7:92131246 T / C
• gnomAD v2: 7-92131246-T-C
• gnomAD v4: 7-92501932-T-C
• MyVariant Identifiers: chr7:g.92131246T>C (hg19) ; chr7:g.92501932T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501932T>C , CM000669.2:g.92501932T>C	GRCh38
NC_000007.13:g.92131246T>C , CM000669.1:g.92131246T>C	GRCh37
NC_000007.12:g.91969182T>C	NCBI36
NG_008341.1:g.31600A>G
NG_008341.2:g.31600A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2374A>G MANE Select	ENSP00000248633.4:p.Ile792Val
ENST00000248633.8:c.2374A>G	ENSP00000248633.4:p.Ile792Val
ENST00000428214.5:c.2203A>G	ENSP00000394413.1:p.Ile735Val
ENST00000438045.5:c.1408A>G	ENSP00000410438.1:p.Ile470Val
ENST00000484913.5:n.2413A>G
ENST00000496092.1:n.172A>G
ENST00000496420.5:n.2050A>G
NM_000466.2:c.2374A>G	NP_000457.1:p.Ile792Val
NM_001282677.1:c.2203A>G	NP_001269606.1:p.Ile735Val
NM_001282678.1:c.1750A>G	NP_001269607.1:p.Ile584Val
XM_005250433.3:c.625A>G	XP_005250490.1:p.Ile209Val
XR_242246.3:n.2470A>G
XM_017012319.2:c.625A>G	XP_016867808.1:p.Ile209Val
XR_001744808.2:n.1401A>G
XR_242246.5:n.2421A>G
NM_000466.3:c.2374A>G MANE Select	NP_000457.1:p.Ile792Val
NM_001282677.2:c.2203A>G	NP_001269606.1:p.Ile735Val
NM_001282678.2:c.1750A>G	NP_001269607.1:p.Ile584Val