Canonical Allele Identifier: CA4341467

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2976608
• ClinVar RCV Id: RCV003838742
• dbSNP Id: rs369730771
• ExAC: 7:92146573 A / T
• gnomAD v2: 7-92146573-A-T
• gnomAD v4: 7-92517259-A-T
• MyVariant Identifiers: chr7:g.92146573A>T (hg19) ; chr7:g.92517259A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517259A>T , CM000669.2:g.92517259A>T	GRCh38
NC_000007.13:g.92146573A>T , CM000669.1:g.92146573A>T	GRCh37
NC_000007.12:g.91984509A>T	NCBI36
NG_008341.1:g.16273T>A
NG_008341.2:g.16273T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1239+17T>A MANE Select	ENSP00000248633.4:n.1239+17T>A
ENST00000248633.8:c.1239+17T>A	ENSP00000248633.4:n.1239+17T>A
ENST00000422866.1:c.140+17T>A
ENST00000428214.5:c.1239+17T>A	ENSP00000394413.1:n.1239+17T>A
ENST00000438045.5:c.274-3292T>A	ENSP00000410438.1:n.274-3292T>A
ENST00000484913.5:n.1278+17T>A
NM_000466.2:c.1239+17T>A	NP_000457.1:n.1239+17T>A
NM_001282677.1:c.1239+17T>A	NP_001269606.1:n.1239+17T>A
NM_001282678.1:c.615+17T>A	NP_001269607.1:n.615+17T>A
XR_242246.3:n.1335+17T>A
XM_017012319.2:c.-428+17T>A	XP_016867808.1:n.-428+17T>A
XR_001744808.2:n.349+17T>A
XR_242246.5:n.1286+17T>A
NM_000466.3:c.1239+17T>A MANE Select	NP_000457.1:n.1239+17T>A
NM_001282677.2:c.1239+17T>A	NP_001269606.1:n.1239+17T>A
NM_001282678.2:c.615+17T>A	NP_001269607.1:n.615+17T>A