Canonical Allele Identifier: CA368198935

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1209636
• ClinVar RCV Id: RCV001578746 ; RCV001578747 ; RCV001578748
• dbSNP Id: rs2116244426
• MyVariant Identifiers: chr7:g.92146902G>C (hg19) ; chr7:g.92517588G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517588G>C , CM000669.2:g.92517588G>C	GRCh38
NC_000007.13:g.92146902G>C , CM000669.1:g.92146902G>C	GRCh37
NC_000007.12:g.91984838G>C	NCBI36
NG_008341.1:g.15944C>G
NG_008341.2:g.15944C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.927C>G MANE Select	ENSP00000248633.4:p.His309Gln
ENST00000248633.8:c.927C>G	ENSP00000248633.4:p.His309Gln
ENST00000428214.5:c.927C>G	ENSP00000394413.1:p.His309Gln
ENST00000438045.5:c.274-3621C>G	ENSP00000410438.1:n.274-3621C>G
ENST00000484913.5:n.966C>G
NM_000466.2:c.927C>G	NP_000457.1:p.His309Gln
NM_001282677.1:c.927C>G	NP_001269606.1:p.His309Gln
NM_001282678.1:c.303C>G	NP_001269607.1:p.His101Gln
XR_242246.3:n.1023C>G
XM_017012319.2:c.-740C>G	XP_016867808.1:n.-740C>G
XR_001744808.2:n.37C>G
XR_242246.5:n.974C>G
NM_000466.3:c.927C>G MANE Select	NP_000457.1:p.His309Gln
NM_001282677.2:c.927C>G	NP_001269606.1:p.His309Gln
NM_001282678.2:c.303C>G	NP_001269607.1:p.His101Gln