Canonical Allele Identifier: CA161964664

Gene: PEX1

Linked Data

• dbSNP Id: rs61750411
• MyVariant Identifiers: chr7:g.92134109G>T (hg19) ; chr7:g.92504795G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2008C>A MANE Select	ENSP00000248633.4:p.Leu670Met
ENST00000248633.8:c.2008C>A	ENSP00000248633.4:p.Leu670Met
ENST00000428214.5:c.1900+1453C>A	ENSP00000394413.1:n.1900+1453C>A
ENST00000438045.5:c.1042C>A	ENSP00000410438.1:p.Leu348Met
ENST00000484913.5:n.2047C>A
ENST00000496420.5:n.1684C>A
NM_000466.2:c.2008C>A	NP_000457.1:p.Leu670Met
NM_001282677.1:c.1900+1453C>A	NP_001269606.1:n.1900+1453C>A
NM_001282678.1:c.1384C>A	NP_001269607.1:p.Leu462Met
XM_005250433.3:c.259C>A	XP_005250490.1:p.Leu87Met
XR_242246.3:n.2104C>A
XM_017012319.2:c.259C>A	XP_016867808.1:p.Leu87Met
XR_001744808.2:n.1035C>A
XR_242246.5:n.2055C>A
NM_000466.3:c.2008C>A MANE Select	NP_000457.1:p.Leu670Met
NM_001282677.2:c.1900+1453C>A	NP_001269606.1:n.1900+1453C>A
NM_001282678.2:c.1384C>A	NP_001269607.1:p.Leu462Met