Canonical Allele Identifier: CA1725949491

Gene: PEX1

Linked Data

• dbSNP Id: rs1792944405

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519182G>C , CM000669.2:g.92519182G>C	GRCh38
NC_000007.13:g.92148496G>C , CM000669.1:g.92148496G>C	GRCh37
NC_000007.12:g.91986432G>C	NCBI36
NG_008341.1:g.14350C>G
NG_008341.2:g.14350C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-104C>G MANE Select	ENSP00000248633.4:n.274-104C>G
ENST00000248633.8:c.274-104C>G	ENSP00000248633.4:n.274-104C>G
ENST00000428214.5:c.274-104C>G	ENSP00000394413.1:n.274-104C>G
ENST00000438045.5:c.273+2920C>G	ENSP00000410438.1:n.273+2920C>G
ENST00000484913.5:n.278-104C>G
NM_000466.2:c.274-104C>G	NP_000457.1:n.274-104C>G
NM_001282677.1:c.274-104C>G	NP_001269606.1:n.274-104C>G
NM_001282678.1:c.-386-104C>G	NP_001269607.1:n.-386-104C>G
XR_242246.3:n.370-104C>G
XR_242246.5:n.321-104C>G
NM_000466.3:c.274-104C>G MANE Select	NP_000457.1:n.274-104C>G
NM_001282677.2:c.274-104C>G	NP_001269606.1:n.274-104C>G
NM_001282678.2:c.-386-104C>G	NP_001269607.1:n.-386-104C>G