Canonical Allele Identifier: CA4341639

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1058531
• ClinVar RCV Id: RCV001367682 ; RCV002547875
• dbSNP Id: rs143369243
• ExAC: 7:92148361 G / T
• gnomAD v2: 7-92148361-G-T
• gnomAD v3: 7-92519047-G-T
• gnomAD v4: 7-92519047-G-T
• MyVariant Identifiers: chr7:g.92148361G>T (hg19) ; chr7:g.92519047G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519047G>T , CM000669.2:g.92519047G>T	GRCh38
NC_000007.13:g.92148361G>T , CM000669.1:g.92148361G>T	GRCh37
NC_000007.12:g.91986297G>T	NCBI36
NG_008341.1:g.14485C>A
NG_008341.2:g.14485C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.305C>A MANE Select	ENSP00000248633.4:p.Ser102Tyr
ENST00000248633.8:c.305C>A	ENSP00000248633.4:p.Ser102Tyr
ENST00000428214.5:c.305C>A	ENSP00000394413.1:p.Ser102Tyr
ENST00000438045.5:c.273+3055C>A	ENSP00000410438.1:n.273+3055C>A
ENST00000484913.5:n.309C>A
NM_000466.2:c.305C>A	NP_000457.1:p.Ser102Tyr
NM_001282677.1:c.305C>A	NP_001269606.1:p.Ser102Tyr
NM_001282678.1:c.-355C>A	NP_001269607.1:n.-355C>A
XR_242246.3:n.401C>A
XR_242246.5:n.352C>A
NM_000466.3:c.305C>A MANE Select	NP_000457.1:p.Ser102Tyr
NM_001282677.2:c.305C>A	NP_001269606.1:p.Ser102Tyr
NM_001282678.2:c.-355C>A	NP_001269607.1:n.-355C>A