Canonical Allele Identifier: CA368190233

Gene: PEX1

Linked Data

• gnomAD v4: 7-92511010-C-A
• MyVariant Identifiers: chr7:g.92140324C>A (hg19) ; chr7:g.92511010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511010C>A , CM000669.2:g.92511010C>A	GRCh38
NC_000007.13:g.92140324C>A , CM000669.1:g.92140324C>A	GRCh37
NC_000007.12:g.91978260C>A	NCBI36
NG_008341.1:g.22522G>T
NG_008341.2:g.22522G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1521G>T MANE Select	ENSP00000248633.4:p.Trp507Cys
ENST00000248633.8:c.1521G>T	ENSP00000248633.4:p.Trp507Cys
ENST00000422866.1:c.422G>T
ENST00000428214.5:c.1521G>T	ENSP00000394413.1:p.Trp507Cys
ENST00000438045.5:c.555G>T	ENSP00000410438.1:p.Trp185Cys
ENST00000476923.1:n.282G>T
ENST00000484913.5:n.1560G>T
NM_000466.2:c.1521G>T	NP_000457.1:p.Trp507Cys
NM_001282677.1:c.1521G>T	NP_001269606.1:p.Trp507Cys
NM_001282678.1:c.897G>T	NP_001269607.1:p.Trp299Cys
XM_005250433.3:c.-146G>T	XP_005250490.1:n.-146G>T
XR_242246.3:n.1617G>T
XM_017012319.2:c.-146G>T	XP_016867808.1:n.-146G>T
XR_001744808.2:n.631G>T
XR_242246.5:n.1568G>T
NM_000466.3:c.1521G>T MANE Select	NP_000457.1:p.Trp507Cys
NM_001282677.2:c.1521G>T	NP_001269606.1:p.Trp507Cys
NM_001282678.2:c.897G>T	NP_001269607.1:p.Trp299Cys