Canonical Allele Identifier: CA456483506

Gene: PEX1

Linked Data

• dbSNP Id: rs1188145762
• gnomAD v2: 7-92135641-A-G
• gnomAD v4: 7-92506327-A-G
• MyVariant Identifiers: chr7:g.92135641A>G (hg19) ; chr7:g.92506327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506327A>G , CM000669.2:g.92506327A>G	GRCh38
NC_000007.13:g.92135641A>G , CM000669.1:g.92135641A>G	GRCh37
NC_000007.12:g.91973577A>G	NCBI36
NG_008341.1:g.27205T>C
NG_008341.2:g.27205T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1821T>C MANE Select	ENSP00000248633.4:p.Thr607=
ENST00000248633.8:c.1821T>C	ENSP00000248633.4:p.Thr607=
ENST00000422866.1:c.639T>C
ENST00000428214.5:c.1821T>C	ENSP00000394413.1:p.Thr607=
ENST00000438045.5:c.855T>C	ENSP00000410438.1:p.Thr285=
ENST00000484913.5:n.1860T>C
ENST00000496420.5:n.1497T>C
NM_000466.2:c.1821T>C	NP_000457.1:p.Thr607=
NM_001282677.1:c.1821T>C	NP_001269606.1:p.Thr607=
NM_001282678.1:c.1197T>C	NP_001269607.1:p.Thr399=
XM_005250433.3:c.72T>C	XP_005250490.1:p.Thr24=
XR_242246.3:n.1917T>C
XM_017012319.2:c.72T>C	XP_016867808.1:p.Thr24=
XR_001744808.2:n.848T>C
XR_242246.5:n.1868T>C
NM_000466.3:c.1821T>C MANE Select	NP_000457.1:p.Thr607=
NM_001282677.2:c.1821T>C	NP_001269606.1:p.Thr607=
NM_001282678.2:c.1197T>C	NP_001269607.1:p.Thr399=