Canonical Allele Identifier: CA4341518

Gene: PEX1

Linked Data

• dbSNP Id: rs772288971
• ExAC: 7:92146903 T / C
• gnomAD v2: 7-92146903-T-C
• gnomAD v3: 7-92517589-T-C
• gnomAD v4: 7-92517589-T-C
• MyVariant Identifiers: chr7:g.92146903T>C (hg19) ; chr7:g.92517589T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517589T>C , CM000669.2:g.92517589T>C	GRCh38
NC_000007.13:g.92146903T>C , CM000669.1:g.92146903T>C	GRCh37
NC_000007.12:g.91984839T>C	NCBI36
NG_008341.1:g.15943A>G
NG_008341.2:g.15943A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.926A>G MANE Select	ENSP00000248633.4:p.His309Arg
ENST00000248633.8:c.926A>G	ENSP00000248633.4:p.His309Arg
ENST00000428214.5:c.926A>G	ENSP00000394413.1:p.His309Arg
ENST00000438045.5:c.274-3622A>G	ENSP00000410438.1:n.274-3622A>G
ENST00000484913.5:n.965A>G
NM_000466.2:c.926A>G	NP_000457.1:p.His309Arg
NM_001282677.1:c.926A>G	NP_001269606.1:p.His309Arg
NM_001282678.1:c.302A>G	NP_001269607.1:p.His101Arg
XR_242246.3:n.1022A>G
XM_017012319.2:c.-741A>G	XP_016867808.1:n.-741A>G
XR_001744808.2:n.36A>G
XR_242246.5:n.973A>G
NM_000466.3:c.926A>G MANE Select	NP_000457.1:p.His309Arg
NM_001282677.2:c.926A>G	NP_001269606.1:p.His309Arg
NM_001282678.2:c.302A>G	NP_001269607.1:p.His101Arg