Canonical Allele Identifier: CA1104478395

Gene: PEX1

Linked Data

• dbSNP Id: rs1193626324
• gnomAD v3: 7-92522434-T-A
• gnomAD v4: 7-92522434-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522434T>A , CM000669.2:g.92522434T>A	GRCh38
NC_000007.13:g.92151748T>A , CM000669.1:g.92151748T>A	GRCh37
NC_000007.12:g.91989684T>A	NCBI36
NG_008341.1:g.11098A>T
NG_008341.2:g.11098A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.130-189A>T MANE Select	ENSP00000248633.4:n.130-189A>T
ENST00000248633.8:c.130-189A>T	ENSP00000248633.4:n.130-189A>T
ENST00000428214.5:c.130-189A>T	ENSP00000394413.1:n.130-189A>T
ENST00000438045.5:c.130-189A>T	ENSP00000410438.1:n.130-189A>T
ENST00000484913.5:n.134-189A>T
NM_000466.2:c.130-189A>T	NP_000457.1:n.130-189A>T
NM_001282677.1:c.130-189A>T	NP_001269606.1:n.130-189A>T
NM_001282678.1:c.-530-189A>T	NP_001269607.1:n.-530-189A>T
XR_242246.3:n.226-189A>T
XR_242246.5:n.177-189A>T
NM_000466.3:c.130-189A>T MANE Select	NP_000457.1:n.130-189A>T
NM_001282677.2:c.130-189A>T	NP_001269606.1:n.130-189A>T
NM_001282678.2:c.-530-189A>T	NP_001269607.1:n.-530-189A>T