Canonical Allele Identifier: CA2573142420

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1668817
• ClinVar RCV Id: RCV002196105
• dbSNP Id: rs2116204929

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510936G>C , CM000669.2:g.92510936G>C	GRCh38
NC_000007.13:g.92140250G>C , CM000669.1:g.92140250G>C	GRCh37
NC_000007.12:g.91978186G>C	NCBI36
NG_008341.1:g.22596C>G
NG_008341.2:g.22596C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1587+8C>G MANE Select	ENSP00000248633.4:n.1587+8C>G
ENST00000248633.8:c.1587+8C>G	ENSP00000248633.4:n.1587+8C>G
ENST00000422866.1:c.488+8C>G
ENST00000428214.5:c.1587+8C>G	ENSP00000394413.1:n.1587+8C>G
ENST00000438045.5:c.621+8C>G	ENSP00000410438.1:n.621+8C>G
ENST00000476923.1:n.356C>G
ENST00000484913.5:n.1626+8C>G
NM_000466.2:c.1587+8C>G	NP_000457.1:n.1587+8C>G
NM_001282677.1:c.1587+8C>G	NP_001269606.1:n.1587+8C>G
NM_001282678.1:c.963+8C>G	NP_001269607.1:n.963+8C>G
XM_005250433.3:c.-80+8C>G	XP_005250490.1:n.-80+8C>G
XR_242246.3:n.1683+8C>G
XM_017012319.2:c.-80+8C>G	XP_016867808.1:n.-80+8C>G
XR_001744808.2:n.697+8C>G
XR_242246.5:n.1634+8C>G
NM_000466.3:c.1587+8C>G MANE Select	NP_000457.1:n.1587+8C>G
NM_001282677.2:c.1587+8C>G	NP_001269606.1:n.1587+8C>G
NM_001282678.2:c.963+8C>G	NP_001269607.1:n.963+8C>G