Canonical Allele Identifier: CA368171235

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496771-C-T
• MyVariant Identifiers: chr7:g.92126085C>T (hg19) ; chr7:g.92496771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496771C>T , CM000669.2:g.92496771C>T	GRCh38
NC_000007.13:g.92126085C>T , CM000669.1:g.92126085C>T	GRCh37
NC_000007.12:g.91964021C>T	NCBI36
NG_008341.1:g.36761G>A
NG_008341.2:g.36761G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2725G>A MANE Select	ENSP00000248633.4:p.Glu909Lys
ENST00000248633.8:c.2725G>A	ENSP00000248633.4:p.Glu909Lys
ENST00000428214.5:c.2554G>A	ENSP00000394413.1:p.Glu852Lys
ENST00000438045.5:c.1759G>A	ENSP00000410438.1:p.Glu587Lys
ENST00000484913.5:n.2764G>A
ENST00000496420.5:n.2617G>A
NM_000466.2:c.2725G>A	NP_000457.1:p.Glu909Lys
NM_001282677.1:c.2554G>A	NP_001269606.1:p.Glu852Lys
NM_001282678.1:c.2101G>A	NP_001269607.1:p.Glu701Lys
XM_005250433.3:c.976G>A	XP_005250490.1:p.Glu326Lys
XR_242246.3:n.2821G>A
XM_017012319.2:c.976G>A	XP_016867808.1:p.Glu326Lys
XR_001744808.2:n.1752G>A
XR_242246.5:n.2772G>A
NM_000466.3:c.2725G>A MANE Select	NP_000457.1:p.Glu909Lys
NM_001282677.2:c.2554G>A	NP_001269606.1:p.Glu852Lys
NM_001282678.2:c.2101G>A	NP_001269607.1:p.Glu701Lys