Canonical Allele Identifier: CA4341370

Gene: PEX1

Linked Data

• ClinVar Variation Id: 426135
• ClinVar RCV Id: RCV000730939 ; RCV001162173 ; RCV001277308
• dbSNP Id: rs199526105
• ExAC: 7:92140253 A / G
• gnomAD v2: 7-92140253-A-G
• gnomAD v3: 7-92510939-A-G
• gnomAD v4: 7-92510939-A-G
• MyVariant Identifiers: chr7:g.92140253A>G (hg19) ; chr7:g.92510939A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510939A>G , CM000669.2:g.92510939A>G	GRCh38
NC_000007.13:g.92140253A>G , CM000669.1:g.92140253A>G	GRCh37
NC_000007.12:g.91978189A>G	NCBI36
NG_008341.1:g.22593T>C
NG_008341.2:g.22593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1587+5T>C MANE Select	ENSP00000248633.4:n.1587+5T>C
ENST00000248633.8:c.1587+5T>C	ENSP00000248633.4:n.1587+5T>C
ENST00000422866.1:c.488+5T>C
ENST00000428214.5:c.1587+5T>C	ENSP00000394413.1:n.1587+5T>C
ENST00000438045.5:c.621+5T>C	ENSP00000410438.1:n.621+5T>C
ENST00000476923.1:n.353T>C
ENST00000484913.5:n.1626+5T>C
NM_000466.2:c.1587+5T>C	NP_000457.1:n.1587+5T>C
NM_001282677.1:c.1587+5T>C	NP_001269606.1:n.1587+5T>C
NM_001282678.1:c.963+5T>C	NP_001269607.1:n.963+5T>C
XM_005250433.3:c.-80+5T>C	XP_005250490.1:n.-80+5T>C
XR_242246.3:n.1683+5T>C
XM_017012319.2:c.-80+5T>C	XP_016867808.1:n.-80+5T>C
XR_001744808.2:n.697+5T>C
XR_242246.5:n.1634+5T>C
NM_000466.3:c.1587+5T>C MANE Select	NP_000457.1:n.1587+5T>C
NM_001282677.2:c.1587+5T>C	NP_001269606.1:n.1587+5T>C
NM_001282678.2:c.963+5T>C	NP_001269607.1:n.963+5T>C