Canonical Allele Identifier: CA4341550

Gene: PEX1

Linked Data

• ClinVar Variation Id: 908690
• ClinVar RCV Id: RCV001159300 ; RCV002557363
• dbSNP Id: rs764044654
• ExAC: 7:92147105 C / T
• gnomAD v2: 7-92147105-C-T
• gnomAD v3: 7-92517791-C-T
• gnomAD v4: 7-92517791-C-T
• MyVariant Identifiers: chr7:g.92147105C>T (hg19) ; chr7:g.92517791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517791C>T , CM000669.2:g.92517791C>T	GRCh38
NC_000007.13:g.92147105C>T , CM000669.1:g.92147105C>T	GRCh37
NC_000007.12:g.91985041C>T	NCBI36
NG_008341.1:g.15741G>A
NG_008341.2:g.15741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.724G>A MANE Select	ENSP00000248633.4:p.Val242Ile
ENST00000248633.8:c.724G>A	ENSP00000248633.4:p.Val242Ile
ENST00000428214.5:c.724G>A	ENSP00000394413.1:p.Val242Ile
ENST00000438045.5:c.274-3824G>A	ENSP00000410438.1:n.274-3824G>A
ENST00000484913.5:n.763G>A
NM_000466.2:c.724G>A	NP_000457.1:p.Val242Ile
NM_001282677.1:c.724G>A	NP_001269606.1:p.Val242Ile
NM_001282678.1:c.100G>A	NP_001269607.1:p.Val34Ile
XR_242246.3:n.820G>A
XR_242246.5:n.771G>A
NM_000466.3:c.724G>A MANE Select	NP_000457.1:p.Val242Ile
NM_001282677.2:c.724G>A	NP_001269606.1:p.Val242Ile
NM_001282678.2:c.100G>A	NP_001269607.1:p.Val34Ile