Canonical Allele Identifier: CA16041164

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371701
• ClinVar RCV Id: RCV000409309 ; RCV000411742 ; RCV001212702 ; RCV003475979
• dbSNP Id: rs1057517469
• gnomAD v4: 7-92510943-C-T
• MyVariant Identifiers: chr7:g.92140257C>T (hg19) ; chr7:g.92510943C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510943C>T , CM000669.2:g.92510943C>T	GRCh38
NC_000007.13:g.92140257C>T , CM000669.1:g.92140257C>T	GRCh37
NC_000007.12:g.91978193C>T	NCBI36
NG_008341.1:g.22589G>A
NG_008341.2:g.22589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1587+1G>A MANE Select	ENSP00000248633.4:n.1587+1G>A
ENST00000248633.8:c.1587+1G>A	ENSP00000248633.4:n.1587+1G>A
ENST00000422866.1:c.488+1G>A
ENST00000428214.5:c.1587+1G>A	ENSP00000394413.1:n.1587+1G>A
ENST00000438045.5:c.621+1G>A	ENSP00000410438.1:n.621+1G>A
ENST00000476923.1:n.349G>A
ENST00000484913.5:n.1626+1G>A
NM_000466.2:c.1587+1G>A	NP_000457.1:n.1587+1G>A
NM_001282677.1:c.1587+1G>A	NP_001269606.1:n.1587+1G>A
NM_001282678.1:c.963+1G>A	NP_001269607.1:n.963+1G>A
XM_005250433.3:c.-80+1G>A	XP_005250490.1:n.-80+1G>A
XR_242246.3:n.1683+1G>A
XM_017012319.2:c.-80+1G>A	XP_016867808.1:n.-80+1G>A
XR_001744808.2:n.697+1G>A
XR_242246.5:n.1634+1G>A
NM_000466.3:c.1587+1G>A MANE Select	NP_000457.1:n.1587+1G>A
NM_001282677.2:c.1587+1G>A	NP_001269606.1:n.1587+1G>A
NM_001282678.2:c.963+1G>A	NP_001269607.1:n.963+1G>A