Canonical Allele Identifier: CA4341671

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1141981
• ClinVar RCV Id: RCV001479611 ; RCV003438823
• dbSNP Id: rs200950057
• ExAC: 7:92151530 G / A
• gnomAD v2: 7-92151530-G-A
• gnomAD v3: 7-92522216-G-A
• gnomAD v4: 7-92522216-G-A
• MyVariant Identifiers: chr7:g.92151530G>A (hg19) ; chr7:g.92522216G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522216G>A , CM000669.2:g.92522216G>A	GRCh38
NC_000007.13:g.92151530G>A , CM000669.1:g.92151530G>A	GRCh37
NC_000007.12:g.91989466G>A	NCBI36
NG_008341.1:g.11316C>T
NG_008341.2:g.11316C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.159C>T MANE Select	ENSP00000248633.4:p.His53=
ENST00000248633.8:c.159C>T	ENSP00000248633.4:p.His53=
ENST00000428214.5:c.159C>T	ENSP00000394413.1:p.His53=
ENST00000438045.5:c.159C>T	ENSP00000410438.1:p.His53=
ENST00000484913.5:n.163C>T
NM_000466.2:c.159C>T	NP_000457.1:p.His53=
NM_001282677.1:c.159C>T	NP_001269606.1:p.His53=
NM_001282678.1:c.-501C>T	NP_001269607.1:n.-501C>T
XR_242246.3:n.255C>T
XR_242246.5:n.206C>T
NM_000466.3:c.159C>T MANE Select	NP_000457.1:p.His53=
NM_001282677.2:c.159C>T	NP_001269606.1:p.His53=
NM_001282678.2:c.-501C>T	NP_001269607.1:n.-501C>T