Canonical Allele Identifier: CA368170851

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92126033A>C (hg19) ; chr7:g.92496719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496719A>C , CM000669.2:g.92496719A>C	GRCh38
NC_000007.13:g.92126033A>C , CM000669.1:g.92126033A>C	GRCh37
NC_000007.12:g.91963969A>C	NCBI36
NG_008341.1:g.36813T>G
NG_008341.2:g.36813T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2777T>G MANE Select	ENSP00000248633.4:p.Phe926Cys
ENST00000248633.8:c.2777T>G	ENSP00000248633.4:p.Phe926Cys
ENST00000428214.5:c.2606T>G	ENSP00000394413.1:p.Phe869Cys
ENST00000438045.5:c.1811T>G	ENSP00000410438.1:p.Phe604Cys
ENST00000484913.5:n.2816T>G
ENST00000496420.5:n.2669T>G
NM_000466.2:c.2777T>G	NP_000457.1:p.Phe926Cys
NM_001282677.1:c.2606T>G	NP_001269606.1:p.Phe869Cys
NM_001282678.1:c.2153T>G	NP_001269607.1:p.Phe718Cys
XM_005250433.3:c.1028T>G	XP_005250490.1:p.Phe343Cys
XR_242246.3:n.2873T>G
XM_017012319.2:c.1028T>G	XP_016867808.1:p.Phe343Cys
XR_001744808.2:n.1804T>G
XR_242246.5:n.2824T>G
NM_000466.3:c.2777T>G MANE Select	NP_000457.1:p.Phe926Cys
NM_001282677.2:c.2606T>G	NP_001269606.1:p.Phe869Cys
NM_001282678.2:c.2153T>G	NP_001269607.1:p.Phe718Cys