Canonical Allele Identifier: CA234519

Gene: PEX1

Linked Data

• ClinVar Variation Id: 167445
• ClinVar RCV Id: RCV000153672 ; RCV000298239 ; RCV001328780 ; RCV001240934 ; RCV001824124 ; RCV002516087
• dbSNP Id: rs200752969
• ExAC: 7:92147202 C / T
• gnomAD v2: 7-92147202-C-T
• gnomAD v3: 7-92517888-C-T
• gnomAD v4: 7-92517888-C-T
• MyVariant Identifiers: chr7:g.92147202C>T (hg19) ; chr7:g.92517888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517888C>T , CM000669.2:g.92517888C>T	GRCh38
NC_000007.13:g.92147202C>T , CM000669.1:g.92147202C>T	GRCh37
NC_000007.12:g.91985138C>T	NCBI36
NG_008341.1:g.15644G>A
NG_008341.2:g.15644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.627G>A MANE Select	ENSP00000248633.4:p.Met209Ile
ENST00000248633.8:c.627G>A	ENSP00000248633.4:p.Met209Ile
ENST00000428214.5:c.627G>A	ENSP00000394413.1:p.Met209Ile
ENST00000438045.5:c.274-3921G>A	ENSP00000410438.1:n.274-3921G>A
ENST00000484913.5:n.666G>A
NM_000466.2:c.627G>A	NP_000457.1:p.Met209Ile
NM_001282677.1:c.627G>A	NP_001269606.1:p.Met209Ile
NM_001282678.1:c.3G>A	NP_001269607.1:p.Met1Ile
XR_242246.3:n.723G>A
XR_242246.5:n.674G>A
NM_000466.3:c.627G>A MANE Select	NP_000457.1:p.Met209Ile
NM_001282677.2:c.627G>A	NP_001269606.1:p.Met209Ile
NM_001282678.2:c.3G>A	NP_001269607.1:p.Met1Ile