Canonical Allele Identifier: CA576305543

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1082606
• ClinVar RCV Id: RCV001398992
• dbSNP Id: rs1474660103
• gnomAD v2: 7-92135555-C-T
• gnomAD v3: 7-92506241-C-T
• gnomAD v4: 7-92506241-C-T
• MyVariant Identifiers: chr7:g.92135555C>T (hg19) ; chr7:g.92506241C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506241C>T , CM000669.2:g.92506241C>T	GRCh38
NC_000007.13:g.92135555C>T , CM000669.1:g.92135555C>T	GRCh37
NC_000007.12:g.91973491C>T	NCBI36
NG_008341.1:g.27291G>A
NG_008341.2:g.27291G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1900+7G>A MANE Select	ENSP00000248633.4:n.1900+7G>A
ENST00000248633.8:c.1900+7G>A	ENSP00000248633.4:n.1900+7G>A
ENST00000422866.1:c.718+7G>A
ENST00000428214.5:c.1900+7G>A	ENSP00000394413.1:n.1900+7G>A
ENST00000438045.5:c.934+7G>A	ENSP00000410438.1:n.934+7G>A
ENST00000484913.5:n.1939+7G>A
ENST00000496420.5:n.1576+7G>A
NM_000466.2:c.1900+7G>A	NP_000457.1:n.1900+7G>A
NM_001282677.1:c.1900+7G>A	NP_001269606.1:n.1900+7G>A
NM_001282678.1:c.1276+7G>A	NP_001269607.1:n.1276+7G>A
XM_005250433.3:c.151+7G>A	XP_005250490.1:n.151+7G>A
XR_242246.3:n.1996+7G>A
XM_017012319.2:c.151+7G>A	XP_016867808.1:n.151+7G>A
XR_001744808.2:n.927+7G>A
XR_242246.5:n.1947+7G>A
NM_000466.3:c.1900+7G>A MANE Select	NP_000457.1:n.1900+7G>A
NM_001282677.2:c.1900+7G>A	NP_001269606.1:n.1900+7G>A
NM_001282678.2:c.1276+7G>A	NP_001269607.1:n.1276+7G>A