Canonical Allele Identifier: CA2683720581

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518048-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518048T>C , CM000669.2:g.92518048T>C	GRCh38
NC_000007.13:g.92147362T>C , CM000669.1:g.92147362T>C	GRCh37
NC_000007.12:g.91985298T>C	NCBI36
NG_008341.1:g.15484A>G
NG_008341.2:g.15484A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.473-6A>G MANE Select	ENSP00000248633.4:n.473-6A>G
ENST00000248633.8:c.473-6A>G	ENSP00000248633.4:n.473-6A>G
ENST00000428214.5:c.473-6A>G	ENSP00000394413.1:n.473-6A>G
ENST00000438045.5:c.273+4054A>G	ENSP00000410438.1:n.273+4054A>G
ENST00000484913.5:n.512-6A>G
NM_000466.2:c.473-6A>G	NP_000457.1:n.473-6A>G
NM_001282677.1:c.473-6A>G	NP_001269606.1:n.473-6A>G
NM_001282678.1:c.-152-6A>G	NP_001269607.1:n.-152-6A>G
XR_242246.3:n.569-6A>G
XR_242246.5:n.520-6A>G
NM_000466.3:c.473-6A>G MANE Select	NP_000457.1:n.473-6A>G
NM_001282677.2:c.473-6A>G	NP_001269606.1:n.473-6A>G
NM_001282678.2:c.-152-6A>G	NP_001269607.1:n.-152-6A>G