Canonical Allele Identifier: CA368183914

Gene: PEX1

Linked Data

• gnomAD v4: 7-92504859-G-C
• MyVariant Identifiers: chr7:g.92134173G>C (hg19) ; chr7:g.92504859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504859G>C , CM000669.2:g.92504859G>C	GRCh38
NC_000007.13:g.92134173G>C , CM000669.1:g.92134173G>C	GRCh37
NC_000007.12:g.91972109G>C	NCBI36
NG_008341.1:g.28673C>G
NG_008341.2:g.28673C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1944C>G MANE Select	ENSP00000248633.4:p.Phe648Leu
ENST00000248633.8:c.1944C>G	ENSP00000248633.4:p.Phe648Leu
ENST00000428214.5:c.1900+1389C>G	ENSP00000394413.1:n.1900+1389C>G
ENST00000438045.5:c.978C>G	ENSP00000410438.1:p.Phe326Leu
ENST00000484913.5:n.1983C>G
ENST00000496420.5:n.1620C>G
NM_000466.2:c.1944C>G	NP_000457.1:p.Phe648Leu
NM_001282677.1:c.1900+1389C>G	NP_001269606.1:n.1900+1389C>G
NM_001282678.1:c.1320C>G	NP_001269607.1:p.Phe440Leu
XM_005250433.3:c.195C>G	XP_005250490.1:p.Phe65Leu
XR_242246.3:n.2040C>G
XM_017012319.2:c.195C>G	XP_016867808.1:p.Phe65Leu
XR_001744808.2:n.971C>G
XR_242246.5:n.1991C>G
NM_000466.3:c.1944C>G MANE Select	NP_000457.1:p.Phe648Leu
NM_001282677.2:c.1900+1389C>G	NP_001269606.1:n.1900+1389C>G
NM_001282678.2:c.1320C>G	NP_001269607.1:p.Phe440Leu