Canonical Allele Identifier: CA368203268

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1468328
• ClinVar RCV Id: RCV001993636
• dbSNP Id: rs1562868017
• MyVariant Identifiers: chr7:g.92148379G>C (hg19) ; chr7:g.92519065G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519065G>C , CM000669.2:g.92519065G>C	GRCh38
NC_000007.13:g.92148379G>C , CM000669.1:g.92148379G>C	GRCh37
NC_000007.12:g.91986315G>C	NCBI36
NG_008341.1:g.14467C>G
NG_008341.2:g.14467C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.287C>G MANE Select	ENSP00000248633.4:p.Pro96Arg
ENST00000248633.8:c.287C>G	ENSP00000248633.4:p.Pro96Arg
ENST00000428214.5:c.287C>G	ENSP00000394413.1:p.Pro96Arg
ENST00000438045.5:c.273+3037C>G	ENSP00000410438.1:n.273+3037C>G
ENST00000484913.5:n.291C>G
NM_000466.2:c.287C>G	NP_000457.1:p.Pro96Arg
NM_001282677.1:c.287C>G	NP_001269606.1:p.Pro96Arg
NM_001282678.1:c.-373C>G	NP_001269607.1:n.-373C>G
XR_242246.3:n.383C>G
XR_242246.5:n.334C>G
NM_000466.3:c.287C>G MANE Select	NP_000457.1:p.Pro96Arg
NM_001282677.2:c.287C>G	NP_001269606.1:p.Pro96Arg
NM_001282678.2:c.-373C>G	NP_001269607.1:n.-373C>G