Canonical Allele Identifier: CA368174240

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92129139A>C (hg19) ; chr7:g.92499825A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499825A>C , CM000669.2:g.92499825A>C	GRCh38
NC_000007.13:g.92129139A>C , CM000669.1:g.92129139A>C	GRCh37
NC_000007.12:g.91967075A>C	NCBI36
NG_008341.1:g.33707T>G
NG_008341.2:g.33707T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2597T>G MANE Select	ENSP00000248633.4:p.Phe866Cys
ENST00000248633.8:c.2597T>G	ENSP00000248633.4:p.Phe866Cys
ENST00000428214.5:c.2426T>G	ENSP00000394413.1:p.Phe809Cys
ENST00000438045.5:c.1631T>G	ENSP00000410438.1:p.Phe544Cys
ENST00000484913.5:n.2636T>G
ENST00000496420.5:n.2489T>G
NM_000466.2:c.2597T>G	NP_000457.1:p.Phe866Cys
NM_001282677.1:c.2426T>G	NP_001269606.1:p.Phe809Cys
NM_001282678.1:c.1973T>G	NP_001269607.1:p.Phe658Cys
XM_005250433.3:c.848T>G	XP_005250490.1:p.Phe283Cys
XR_242246.3:n.2693T>G
XM_017012319.2:c.848T>G	XP_016867808.1:p.Phe283Cys
XR_001744808.2:n.1624T>G
XR_242246.5:n.2644T>G
NM_000466.3:c.2597T>G MANE Select	NP_000457.1:p.Phe866Cys
NM_001282677.2:c.2426T>G	NP_001269606.1:p.Phe809Cys
NM_001282678.2:c.1973T>G	NP_001269607.1:p.Phe658Cys