Canonical Allele Identifier: CA161960314

Gene: PEX1

Linked Data

• ClinVar Variation Id: 860508
• ClinVar RCV Id: RCV001277053
• dbSNP Id: rs1024476499
• gnomAD v4: 7-92501917-A-T
• MyVariant Identifiers: chr7:g.92131231A>T (hg19) ; chr7:g.92501917A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501917A>T , CM000669.2:g.92501917A>T	GRCh38
NC_000007.13:g.92131231A>T , CM000669.1:g.92131231A>T	GRCh37
NC_000007.12:g.91969167A>T	NCBI36
NG_008341.1:g.31615T>A
NG_008341.2:g.31615T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2389T>A MANE Select	ENSP00000248633.4:p.Ser797Thr
ENST00000248633.8:c.2389T>A	ENSP00000248633.4:p.Ser797Thr
ENST00000428214.5:c.2218T>A	ENSP00000394413.1:p.Ser740Thr
ENST00000438045.5:c.1423T>A	ENSP00000410438.1:p.Ser475Thr
ENST00000484913.5:n.2428T>A
ENST00000496092.1:n.187T>A
ENST00000496420.5:n.2065T>A
NM_000466.2:c.2389T>A	NP_000457.1:p.Ser797Thr
NM_001282677.1:c.2218T>A	NP_001269606.1:p.Ser740Thr
NM_001282678.1:c.1765T>A	NP_001269607.1:p.Ser589Thr
XM_005250433.3:c.640T>A	XP_005250490.1:p.Ser214Thr
XR_242246.3:n.2485T>A
XM_017012319.2:c.640T>A	XP_016867808.1:p.Ser214Thr
XR_001744808.2:n.1416T>A
XR_242246.5:n.2436T>A
NM_000466.3:c.2389T>A MANE Select	NP_000457.1:p.Ser797Thr
NM_001282677.2:c.2218T>A	NP_001269606.1:p.Ser740Thr
NM_001282678.2:c.1765T>A	NP_001269607.1:p.Ser589Thr