Canonical Allele Identifier: CA3005627208

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522256A>C , CM000669.2:g.92522256A>C	GRCh38
NC_000007.13:g.92151570A>C , CM000669.1:g.92151570A>C	GRCh37
NC_000007.12:g.91989506A>C	NCBI36
NG_008341.1:g.11276T>G
NG_008341.2:g.11276T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.130-11T>G MANE Select	ENSP00000248633.4:n.130-11T>G
ENST00000248633.8:c.130-11T>G	ENSP00000248633.4:n.130-11T>G
ENST00000428214.5:c.130-11T>G	ENSP00000394413.1:n.130-11T>G
ENST00000438045.5:c.130-11T>G	ENSP00000410438.1:n.130-11T>G
ENST00000484913.5:n.134-11T>G
NM_000466.2:c.130-11T>G	NP_000457.1:n.130-11T>G
NM_001282677.1:c.130-11T>G	NP_001269606.1:n.130-11T>G
NM_001282678.1:c.-530-11T>G	NP_001269607.1:n.-530-11T>G
XR_242246.3:n.226-11T>G
XR_242246.5:n.177-11T>G
NM_000466.3:c.130-11T>G MANE Select	NP_000457.1:n.130-11T>G
NM_001282677.2:c.130-11T>G	NP_001269606.1:n.130-11T>G
NM_001282678.2:c.-530-11T>G	NP_001269607.1:n.-530-11T>G