Canonical Allele Identifier: CA456483375

Gene: PEX1

Linked Data

• dbSNP Id: rs1792105197
• gnomAD v4: 7-92504838-C-T
• MyVariant Identifiers: chr7:g.92134152C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504838C>T , CM000669.2:g.92504838C>T	GRCh38
NC_000007.13:g.92134152C>T , CM000669.1:g.92134152C>T	GRCh37
NC_000007.12:g.91972088C>T	NCBI36
NG_008341.1:g.28694G>A
NG_008341.2:g.28694G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1965G>A MANE Select	ENSP00000248633.4:p.Gln655=
ENST00000248633.8:c.1965G>A	ENSP00000248633.4:p.Gln655=
ENST00000428214.5:c.1900+1410G>A	ENSP00000394413.1:n.1900+1410G>A
ENST00000438045.5:c.999G>A	ENSP00000410438.1:p.Gln333=
ENST00000484913.5:n.2004G>A
ENST00000496420.5:n.1641G>A
NM_000466.2:c.1965G>A	NP_000457.1:p.Gln655=
NM_001282677.1:c.1900+1410G>A	NP_001269606.1:n.1900+1410G>A
NM_001282678.1:c.1341G>A	NP_001269607.1:p.Gln447=
XM_005250433.3:c.216G>A	XP_005250490.1:p.Gln72=
XR_242246.3:n.2061G>A
XM_017012319.2:c.216G>A	XP_016867808.1:p.Gln72=
XR_001744808.2:n.992G>A
XR_242246.5:n.2012G>A
NM_000466.3:c.1965G>A MANE Select	NP_000457.1:p.Gln655=
NM_001282677.2:c.1900+1410G>A	NP_001269606.1:n.1900+1410G>A
NM_001282678.2:c.1341G>A	NP_001269607.1:p.Gln447=