Canonical Allele Identifier: CA16041173

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371714
• ClinVar RCV Id: RCV000409170 ; RCV000410312 ; RCV001004523 ; RCV001861401 ; RCV002502434
• dbSNP Id: rs1057517479
• gnomAD v4: 7-92518256-C-A
• MyVariant Identifiers: chr7:g.92147570C>A (hg19) ; chr7:g.92518256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518256C>A , CM000669.2:g.92518256C>A	GRCh38
NC_000007.13:g.92147570C>A , CM000669.1:g.92147570C>A	GRCh37
NC_000007.12:g.91985506C>A	NCBI36
NG_008341.1:g.15276G>T
NG_008341.2:g.15276G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-1G>T MANE Select	ENSP00000248633.4:n.358-1G>T
ENST00000248633.8:c.358-1G>T	ENSP00000248633.4:n.358-1G>T
ENST00000428214.5:c.358-1G>T	ENSP00000394413.1:n.358-1G>T
ENST00000438045.5:c.273+3846G>T	ENSP00000410438.1:n.273+3846G>T
ENST00000484913.5:n.397-1G>T
NM_000466.2:c.358-1G>T	NP_000457.1:n.358-1G>T
NM_001282677.1:c.358-1G>T	NP_001269606.1:n.358-1G>T
NM_001282678.1:c.-267-1G>T	NP_001269607.1:n.-267-1G>T
XR_242246.3:n.454-1G>T
XR_242246.5:n.405-1G>T
NM_000466.3:c.358-1G>T MANE Select	NP_000457.1:n.358-1G>T
NM_001282677.2:c.358-1G>T	NP_001269606.1:n.358-1G>T
NM_001282678.2:c.-267-1G>T	NP_001269607.1:n.-267-1G>T