Canonical Allele Identifier: CA210121

Gene: PEX1

Linked Data

• ClinVar Variation Id: 217430
• ClinVar RCV Id: RCV000201308 ; RCV000633316 ; RCV001004518 ; RCV001376605 ; RCV001526999 ; RCV001795328 ; RCV003422106
• dbSNP Id: rs756876301
• ExAC: 7:92146589 C / A
• gnomAD v2: 7-92146589-C-A
• gnomAD v3: 7-92517275-C-A
• gnomAD v4: 7-92517275-C-A
• MyVariant Identifiers: chr7:g.92146589C>A (hg19) ; chr7:g.92517275C>A (hg38)
• PubMed: PMID:19105186 ; PMID:26387595

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517275C>A , CM000669.2:g.92517275C>A	GRCh38
NC_000007.13:g.92146589C>A , CM000669.1:g.92146589C>A	GRCh37
NC_000007.12:g.91984525C>A	NCBI36
NG_008341.1:g.16257G>T
NG_008341.2:g.16257G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1239+1G>T MANE Select	ENSP00000248633.4:n.1239+1G>T
ENST00000248633.8:c.1239+1G>T	ENSP00000248633.4:n.1239+1G>T
ENST00000422866.1:c.140+1G>T
ENST00000428214.5:c.1239+1G>T	ENSP00000394413.1:n.1239+1G>T
ENST00000438045.5:c.274-3308G>T	ENSP00000410438.1:n.274-3308G>T
ENST00000484913.5:n.1278+1G>T
NM_000466.2:c.1239+1G>T	NP_000457.1:n.1239+1G>T
NM_001282677.1:c.1239+1G>T	NP_001269606.1:n.1239+1G>T
NM_001282678.1:c.615+1G>T	NP_001269607.1:n.615+1G>T
XR_242246.3:n.1335+1G>T
XM_017012319.2:c.-428+1G>T	XP_016867808.1:n.-428+1G>T
XR_001744808.2:n.349+1G>T
XR_242246.5:n.1286+1G>T
NM_000466.3:c.1239+1G>T MANE Select	NP_000457.1:n.1239+1G>T
NM_001282677.2:c.1239+1G>T	NP_001269606.1:n.1239+1G>T
NM_001282678.2:c.615+1G>T	NP_001269607.1:n.615+1G>T