Canonical Allele Identifier: CA4341372

Gene: PEX1

Linked Data

• ClinVar Variation Id: 493456
• ClinVar RCV Id: RCV000584993 ; RCV000591691 ; RCV000660395 ; RCV001083497 ; RCV001391319 ; RCV001578749 ; RCV003925755
• dbSNP Id: rs144942544
• ExAC: 7:92140266 T / C
• gnomAD v2: 7-92140266-T-C
• gnomAD v3: 7-92510952-T-C
• gnomAD v4: 7-92510952-T-C
• MyVariant Identifiers: chr7:g.92140266T>C (hg19) ; chr7:g.92510952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510952T>C , CM000669.2:g.92510952T>C	GRCh38
NC_000007.13:g.92140266T>C , CM000669.1:g.92140266T>C	GRCh37
NC_000007.12:g.91978202T>C	NCBI36
NG_008341.1:g.22580A>G
NG_008341.2:g.22580A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1579A>G MANE Select	ENSP00000248633.4:p.Thr527Ala
ENST00000248633.8:c.1579A>G	ENSP00000248633.4:p.Thr527Ala
ENST00000422866.1:c.480A>G
ENST00000428214.5:c.1579A>G	ENSP00000394413.1:p.Thr527Ala
ENST00000438045.5:c.613A>G	ENSP00000410438.1:p.Thr205Ala
ENST00000476923.1:n.340A>G
ENST00000484913.5:n.1618A>G
NM_000466.2:c.1579A>G	NP_000457.1:p.Thr527Ala
NM_001282677.1:c.1579A>G	NP_001269606.1:p.Thr527Ala
NM_001282678.1:c.955A>G	NP_001269607.1:p.Thr319Ala
XM_005250433.3:c.-88A>G	XP_005250490.1:n.-88A>G
XR_242246.3:n.1675A>G
XM_017012319.2:c.-88A>G	XP_016867808.1:n.-88A>G
XR_001744808.2:n.689A>G
XR_242246.5:n.1626A>G
NM_000466.3:c.1579A>G MANE Select	NP_000457.1:p.Thr527Ala
NM_001282677.2:c.1579A>G	NP_001269606.1:p.Thr527Ala
NM_001282678.2:c.955A>G	NP_001269607.1:p.Thr319Ala