Canonical Allele Identifier: CA4341675

Gene: PEX1

Linked Data

• dbSNP Id: rs750276597
• ExAC: 7:92151550 T / C
• gnomAD v2: 7-92151550-T-C
• gnomAD v4: 7-92522236-T-C
• MyVariant Identifiers: chr7:g.92151550T>C (hg19) ; chr7:g.92522236T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522236T>C , CM000669.2:g.92522236T>C	GRCh38
NC_000007.13:g.92151550T>C , CM000669.1:g.92151550T>C	GRCh37
NC_000007.12:g.91989486T>C	NCBI36
NG_008341.1:g.11296A>G
NG_008341.2:g.11296A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.139A>G MANE Select	ENSP00000248633.4:p.Ile47Val
ENST00000248633.8:c.139A>G	ENSP00000248633.4:p.Ile47Val
ENST00000428214.5:c.139A>G	ENSP00000394413.1:p.Ile47Val
ENST00000438045.5:c.139A>G	ENSP00000410438.1:p.Ile47Val
ENST00000484913.5:n.143A>G
NM_000466.2:c.139A>G	NP_000457.1:p.Ile47Val
NM_001282677.1:c.139A>G	NP_001269606.1:p.Ile47Val
NM_001282678.1:c.-521A>G	NP_001269607.1:n.-521A>G
XR_242246.3:n.235A>G
XR_242246.5:n.186A>G
NM_000466.3:c.139A>G MANE Select	NP_000457.1:p.Ile47Val
NM_001282677.2:c.139A>G	NP_001269606.1:p.Ile47Val
NM_001282678.2:c.-521A>G	NP_001269607.1:n.-521A>G