Canonical Allele Identifier: CA368190243

Gene: PEX1

Linked Data

• gnomAD v4: 7-92511011-C-T
• MyVariant Identifiers: chr7:g.92140325C>T (hg19) ; chr7:g.92511011C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511011C>T , CM000669.2:g.92511011C>T	GRCh38
NC_000007.13:g.92140325C>T , CM000669.1:g.92140325C>T	GRCh37
NC_000007.12:g.91978261C>T	NCBI36
NG_008341.1:g.22521G>A
NG_008341.2:g.22521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1520G>A MANE Select	ENSP00000248633.4:p.Trp507Ter
ENST00000248633.8:c.1520G>A	ENSP00000248633.4:p.Trp507Ter
ENST00000422866.1:c.421G>A
ENST00000428214.5:c.1520G>A	ENSP00000394413.1:p.Trp507Ter
ENST00000438045.5:c.554G>A	ENSP00000410438.1:p.Trp185Ter
ENST00000476923.1:n.281G>A
ENST00000484913.5:n.1559G>A
NM_000466.2:c.1520G>A	NP_000457.1:p.Trp507Ter
NM_001282677.1:c.1520G>A	NP_001269606.1:p.Trp507Ter
NM_001282678.1:c.896G>A	NP_001269607.1:p.Trp299Ter
XM_005250433.3:c.-147G>A	XP_005250490.1:n.-147G>A
XR_242246.3:n.1616G>A
XM_017012319.2:c.-147G>A	XP_016867808.1:n.-147G>A
XR_001744808.2:n.630G>A
XR_242246.5:n.1567G>A
NM_000466.3:c.1520G>A MANE Select	NP_000457.1:p.Trp507Ter
NM_001282677.2:c.1520G>A	NP_001269606.1:p.Trp507Ter
NM_001282678.2:c.896G>A	NP_001269607.1:p.Trp299Ter