Canonical Allele Identifier: CA368198751

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146864A>C (hg19) ; chr7:g.92517550A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517550A>C , CM000669.2:g.92517550A>C	GRCh38
NC_000007.13:g.92146864A>C , CM000669.1:g.92146864A>C	GRCh37
NC_000007.12:g.91984800A>C	NCBI36
NG_008341.1:g.15982T>G
NG_008341.2:g.15982T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.965T>G MANE Select	ENSP00000248633.4:p.Phe322Cys
ENST00000248633.8:c.965T>G	ENSP00000248633.4:p.Phe322Cys
ENST00000428214.5:c.965T>G	ENSP00000394413.1:p.Phe322Cys
ENST00000438045.5:c.274-3583T>G	ENSP00000410438.1:n.274-3583T>G
ENST00000484913.5:n.1004T>G
NM_000466.2:c.965T>G	NP_000457.1:p.Phe322Cys
NM_001282677.1:c.965T>G	NP_001269606.1:p.Phe322Cys
NM_001282678.1:c.341T>G	NP_001269607.1:p.Phe114Cys
XR_242246.3:n.1061T>G
XM_017012319.2:c.-702T>G	XP_016867808.1:n.-702T>G
XR_001744808.2:n.75T>G
XR_242246.5:n.1012T>G
NM_000466.3:c.965T>G MANE Select	NP_000457.1:p.Phe322Cys
NM_001282677.2:c.965T>G	NP_001269606.1:p.Phe322Cys
NM_001282678.2:c.341T>G	NP_001269607.1:p.Phe114Cys