Canonical Allele Identifier: CA4341380

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1444588
• ClinVar RCV Id: RCV001982493
• dbSNP Id: rs778220793
• ExAC: 7:92140329 A / G
• gnomAD v2: 7-92140329-A-G
• gnomAD v3: 7-92511015-A-G
• gnomAD v4: 7-92511015-A-G
• MyVariant Identifiers: chr7:g.92140329A>G (hg19) ; chr7:g.92511015A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511015A>G , CM000669.2:g.92511015A>G	GRCh38
NC_000007.13:g.92140329A>G , CM000669.1:g.92140329A>G	GRCh37
NC_000007.12:g.91978265A>G	NCBI36
NG_008341.1:g.22517T>C
NG_008341.2:g.22517T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1516T>C MANE Select	ENSP00000248633.4:p.Ser506Pro
ENST00000248633.8:c.1516T>C	ENSP00000248633.4:p.Ser506Pro
ENST00000422866.1:c.417T>C
ENST00000428214.5:c.1516T>C	ENSP00000394413.1:p.Ser506Pro
ENST00000438045.5:c.550T>C	ENSP00000410438.1:p.Ser184Pro
ENST00000476923.1:n.277T>C
ENST00000484913.5:n.1555T>C
NM_000466.2:c.1516T>C	NP_000457.1:p.Ser506Pro
NM_001282677.1:c.1516T>C	NP_001269606.1:p.Ser506Pro
NM_001282678.1:c.892T>C	NP_001269607.1:p.Ser298Pro
XM_005250433.3:c.-151T>C	XP_005250490.1:n.-151T>C
XR_242246.3:n.1612T>C
XM_017012319.2:c.-151T>C	XP_016867808.1:n.-151T>C
XR_001744808.2:n.626T>C
XR_242246.5:n.1563T>C
NM_000466.3:c.1516T>C MANE Select	NP_000457.1:p.Ser506Pro
NM_001282677.2:c.1516T>C	NP_001269606.1:p.Ser506Pro
NM_001282678.2:c.892T>C	NP_001269607.1:p.Ser298Pro