Canonical Allele Identifier: CA273894

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 188729
• ClinVar RCV Id: RCV000599041 ; RCV001194281 ; RCV002228604 ; RCV001332473 ; RCV001810430 ; RCV002516527 ; RCV003474896 ; RCV004555855
• dbSNP Id: rs267608179
• ExAC: 7:92123800 C / T
• gnomAD v2: 7-92123800-C-T
• gnomAD v3: 7-92494486-C-T
• gnomAD v4: 7-92494486-C-T
• MyVariant Identifiers: chr7:g.92123800C>T (hg19) ; chr7:g.92494486C>T (hg38)
• PubMed: PMID:9398847 ; PMID:9398848 ; PMID:15542397 ; PMID:21031596

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494486C>T , CM000669.2:g.92494486C>T	GRCh38
NC_000007.13:g.92123800C>T , CM000669.1:g.92123800C>T	GRCh37
NC_000007.12:g.91961736C>T	NCBI36
NG_008341.1:g.39046G>A
NG_008341.2:g.39046G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2926+1G>A (PEX1) MANE Select	ENSP00000248633.4:n.2926+1G>A
ENST00000248633.8:c.2926+1G>A (PEX1)	ENSP00000248633.4:n.2926+1G>A
ENST00000428214.5:c.2755+1G>A (PEX1)	ENSP00000394413.1:n.2755+1G>A
ENST00000438045.5:c.1960+1G>A (PEX1)	ENSP00000410438.1:n.1960+1G>A
ENST00000484913.5:n.2965+1G>A (PEX1)
ENST00000496420.5:n.2818+1G>A (PEX1)
NM_000466.2:c.2926+1G>A (PEX1)	NP_000457.1:n.2926+1G>A
NM_001282677.1:c.2755+1G>A (PEX1)	NP_001269606.1:n.2755+1G>A
NM_001282678.1:c.2302+1G>A (PEX1)	NP_001269607.1:n.2302+1G>A
XM_005250433.3:c.1177+1G>A (PEX1)	XP_005250490.1:n.1177+1G>A
XR_242246.3:n.3022+1G>A (PEX1)
XM_017012319.2:c.1177+1G>A (PEX1)	XP_016867808.1:n.1177+1G>A
XR_001744808.2:n.1953+1G>A (PEX1)
XR_001744843.2:n.5455C>T (GATAD1)
XR_242246.5:n.2973+1G>A (PEX1)
XR_927494.3:n.4306C>T (GATAD1)
XR_927503.3:n.4237C>T (GATAD1)
NM_000466.3:c.2926+1G>A (PEX1) MANE Select	NP_000457.1:n.2926+1G>A
NM_001282677.2:c.2755+1G>A (PEX1)	NP_001269606.1:n.2755+1G>A
NM_001282678.2:c.2302+1G>A (PEX1)	NP_001269607.1:n.2302+1G>A