Canonical Allele Identifier: CA2683721125

Gene: PEX1

Linked Data

• gnomAD v4: 7-92519082-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519082G>A , CM000669.2:g.92519082G>A	GRCh38
NC_000007.13:g.92148396G>A , CM000669.1:g.92148396G>A	GRCh37
NC_000007.12:g.91986332G>A	NCBI36
NG_008341.1:g.14450C>T
NG_008341.2:g.14450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-4C>T MANE Select	ENSP00000248633.4:n.274-4C>T
ENST00000248633.8:c.274-4C>T	ENSP00000248633.4:n.274-4C>T
ENST00000428214.5:c.274-4C>T	ENSP00000394413.1:n.274-4C>T
ENST00000438045.5:c.273+3020C>T	ENSP00000410438.1:n.273+3020C>T
ENST00000484913.5:n.278-4C>T
NM_000466.2:c.274-4C>T	NP_000457.1:n.274-4C>T
NM_001282677.1:c.274-4C>T	NP_001269606.1:n.274-4C>T
NM_001282678.1:c.-386-4C>T	NP_001269607.1:n.-386-4C>T
XR_242246.3:n.370-4C>T
XR_242246.5:n.321-4C>T
NM_000466.3:c.274-4C>T MANE Select	NP_000457.1:n.274-4C>T
NM_001282677.2:c.274-4C>T	NP_001269606.1:n.274-4C>T
NM_001282678.2:c.-386-4C>T	NP_001269607.1:n.-386-4C>T