Canonical Allele Identifier: CA2499219055

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1156157
• ClinVar RCV Id: RCV001498703
• dbSNP Id: rs2116175750

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506238A>C , CM000669.2:g.92506238A>C	GRCh38
NC_000007.13:g.92135552A>C , CM000669.1:g.92135552A>C	GRCh37
NC_000007.12:g.91973488A>C	NCBI36
NG_008341.1:g.27294T>G
NG_008341.2:g.27294T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1900+10T>G MANE Select	ENSP00000248633.4:n.1900+10T>G
ENST00000248633.8:c.1900+10T>G	ENSP00000248633.4:n.1900+10T>G
ENST00000422866.1:c.718+10T>G
ENST00000428214.5:c.1900+10T>G	ENSP00000394413.1:n.1900+10T>G
ENST00000438045.5:c.934+10T>G	ENSP00000410438.1:n.934+10T>G
ENST00000484913.5:n.1939+10T>G
ENST00000496420.5:n.1576+10T>G
NM_000466.2:c.1900+10T>G	NP_000457.1:n.1900+10T>G
NM_001282677.1:c.1900+10T>G	NP_001269606.1:n.1900+10T>G
NM_001282678.1:c.1276+10T>G	NP_001269607.1:n.1276+10T>G
XM_005250433.3:c.151+10T>G	XP_005250490.1:n.151+10T>G
XR_242246.3:n.1996+10T>G
XM_017012319.2:c.151+10T>G	XP_016867808.1:n.151+10T>G
XR_001744808.2:n.927+10T>G
XR_242246.5:n.1947+10T>G
NM_000466.3:c.1900+10T>G MANE Select	NP_000457.1:n.1900+10T>G
NM_001282677.2:c.1900+10T>G	NP_001269606.1:n.1900+10T>G
NM_001282678.2:c.1276+10T>G	NP_001269607.1:n.1276+10T>G