Canonical Allele Identifier: CA161965595

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1118511
• ClinVar RCV Id: RCV001447640
• dbSNP Id: rs762766482
• MyVariant Identifiers: chr7:g.92135611A>G (hg19) ; chr7:g.92506297A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506297A>G , CM000669.2:g.92506297A>G	GRCh38
NC_000007.13:g.92135611A>G , CM000669.1:g.92135611A>G	GRCh37
NC_000007.12:g.91973547A>G	NCBI36
NG_008341.1:g.27235T>C
NG_008341.2:g.27235T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1851T>C MANE Select	ENSP00000248633.4:p.Phe617=
ENST00000248633.8:c.1851T>C	ENSP00000248633.4:p.Phe617=
ENST00000422866.1:c.669T>C
ENST00000428214.5:c.1851T>C	ENSP00000394413.1:p.Phe617=
ENST00000438045.5:c.885T>C	ENSP00000410438.1:p.Phe295=
ENST00000484913.5:n.1890T>C
ENST00000496420.5:n.1527T>C
NM_000466.2:c.1851T>C	NP_000457.1:p.Phe617=
NM_001282677.1:c.1851T>C	NP_001269606.1:p.Phe617=
NM_001282678.1:c.1227T>C	NP_001269607.1:p.Phe409=
XM_005250433.3:c.102T>C	XP_005250490.1:p.Phe34=
XR_242246.3:n.1947T>C
XM_017012319.2:c.102T>C	XP_016867808.1:p.Phe34=
XR_001744808.2:n.878T>C
XR_242246.5:n.1898T>C
NM_000466.3:c.1851T>C MANE Select	NP_000457.1:p.Phe617=
NM_001282677.2:c.1851T>C	NP_001269606.1:p.Phe617=
NM_001282678.2:c.1227T>C	NP_001269607.1:p.Phe409=