Canonical Allele Identifier: CA1725948409

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1650368
• ClinVar RCV Id: RCV002144479
• dbSNP Id: rs1792886894

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518122A>G , CM000669.2:g.92518122A>G	GRCh38
NC_000007.13:g.92147436A>G , CM000669.1:g.92147436A>G	GRCh37
NC_000007.12:g.91985372A>G	NCBI36
NG_008341.1:g.15410T>C
NG_008341.2:g.15410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.472+19T>C MANE Select	ENSP00000248633.4:n.472+19T>C
ENST00000248633.8:c.472+19T>C	ENSP00000248633.4:n.472+19T>C
ENST00000428214.5:c.472+19T>C	ENSP00000394413.1:n.472+19T>C
ENST00000438045.5:c.273+3980T>C	ENSP00000410438.1:n.273+3980T>C
ENST00000484913.5:n.511+19T>C
NM_000466.2:c.472+19T>C	NP_000457.1:n.472+19T>C
NM_001282677.1:c.472+19T>C	NP_001269606.1:n.472+19T>C
NM_001282678.1:c.-153+19T>C	NP_001269607.1:n.-153+19T>C
XR_242246.3:n.568+19T>C
XR_242246.5:n.519+19T>C
NM_000466.3:c.472+19T>C MANE Select	NP_000457.1:n.472+19T>C
NM_001282677.2:c.472+19T>C	NP_001269606.1:n.472+19T>C
NM_001282678.2:c.-153+19T>C	NP_001269607.1:n.-153+19T>C