Canonical Allele Identifier: CA368183380

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134109G>C (hg19) ; chr7:g.92504795G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504795G>C , CM000669.2:g.92504795G>C	GRCh38
NC_000007.13:g.92134109G>C , CM000669.1:g.92134109G>C	GRCh37
NC_000007.12:g.91972045G>C	NCBI36
NG_008341.1:g.28737C>G
NG_008341.2:g.28737C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2008C>G MANE Select	ENSP00000248633.4:p.Leu670Val
ENST00000248633.8:c.2008C>G	ENSP00000248633.4:p.Leu670Val
ENST00000428214.5:c.1900+1453C>G	ENSP00000394413.1:n.1900+1453C>G
ENST00000438045.5:c.1042C>G	ENSP00000410438.1:p.Leu348Val
ENST00000484913.5:n.2047C>G
ENST00000496420.5:n.1684C>G
NM_000466.2:c.2008C>G	NP_000457.1:p.Leu670Val
NM_001282677.1:c.1900+1453C>G	NP_001269606.1:n.1900+1453C>G
NM_001282678.1:c.1384C>G	NP_001269607.1:p.Leu462Val
XM_005250433.3:c.259C>G	XP_005250490.1:p.Leu87Val
XR_242246.3:n.2104C>G
XM_017012319.2:c.259C>G	XP_016867808.1:p.Leu87Val
XR_001744808.2:n.1035C>G
XR_242246.5:n.2055C>G
NM_000466.3:c.2008C>G MANE Select	NP_000457.1:p.Leu670Val
NM_001282677.2:c.1900+1453C>G	NP_001269606.1:n.1900+1453C>G
NM_001282678.2:c.1384C>G	NP_001269607.1:p.Leu462Val