Canonical Allele Identifier: CA4341025

Gene: PEX1

Linked Data

• ClinVar Variation Id: 288721
• ClinVar RCV Id: RCV000301612 ; RCV000764729 ; RCV001855212
• dbSNP Id: rs371327573
• ExAC: 7:92126060 G / A
• gnomAD v2: 7-92126060-G-A
• gnomAD v3: 7-92496746-G-A
• gnomAD v4: 7-92496746-G-A
• MyVariant Identifiers: chr7:g.92126060G>A (hg19) ; chr7:g.92496746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496746G>A , CM000669.2:g.92496746G>A	GRCh38
NC_000007.13:g.92126060G>A , CM000669.1:g.92126060G>A	GRCh37
NC_000007.12:g.91963996G>A	NCBI36
NG_008341.1:g.36786C>T
NG_008341.2:g.36786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2750C>T MANE Select	ENSP00000248633.4:p.Ala917Val
ENST00000248633.8:c.2750C>T	ENSP00000248633.4:p.Ala917Val
ENST00000428214.5:c.2579C>T	ENSP00000394413.1:p.Ala860Val
ENST00000438045.5:c.1784C>T	ENSP00000410438.1:p.Ala595Val
ENST00000484913.5:n.2789C>T
ENST00000496420.5:n.2642C>T
NM_000466.2:c.2750C>T	NP_000457.1:p.Ala917Val
NM_001282677.1:c.2579C>T	NP_001269606.1:p.Ala860Val
NM_001282678.1:c.2126C>T	NP_001269607.1:p.Ala709Val
XM_005250433.3:c.1001C>T	XP_005250490.1:p.Ala334Val
XR_242246.3:n.2846C>T
XM_017012319.2:c.1001C>T	XP_016867808.1:p.Ala334Val
XR_001744808.2:n.1777C>T
XR_242246.5:n.2797C>T
NM_000466.3:c.2750C>T MANE Select	NP_000457.1:p.Ala917Val
NM_001282677.2:c.2579C>T	NP_001269606.1:p.Ala860Val
NM_001282678.2:c.2126C>T	NP_001269607.1:p.Ala709Val