Canonical Allele Identifier: CA1725951696

Gene: PEX1

Linked Data

• dbSNP Id: rs1562869976
• gnomAD v4: 7-92522251-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522251C>A , CM000669.2:g.92522251C>A	GRCh38
NC_000007.13:g.92151565C>A , CM000669.1:g.92151565C>A	GRCh37
NC_000007.12:g.91989501C>A	NCBI36
NG_008341.1:g.11281G>T
NG_008341.2:g.11281G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.130-6G>T MANE Select	ENSP00000248633.4:n.130-6G>T
ENST00000248633.8:c.130-6G>T	ENSP00000248633.4:n.130-6G>T
ENST00000428214.5:c.130-6G>T	ENSP00000394413.1:n.130-6G>T
ENST00000438045.5:c.130-6G>T	ENSP00000410438.1:n.130-6G>T
ENST00000484913.5:n.134-6G>T
NM_000466.2:c.130-6G>T	NP_000457.1:n.130-6G>T
NM_001282677.1:c.130-6G>T	NP_001269606.1:n.130-6G>T
NM_001282678.1:c.-530-6G>T	NP_001269607.1:n.-530-6G>T
XR_242246.3:n.226-6G>T
XR_242246.5:n.177-6G>T
NM_000466.3:c.130-6G>T MANE Select	NP_000457.1:n.130-6G>T
NM_001282677.2:c.130-6G>T	NP_001269606.1:n.130-6G>T
NM_001282678.2:c.-530-6G>T	NP_001269607.1:n.-530-6G>T