Canonical Allele Identifier: CA274236

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 189002
• ClinVar RCV Id: RCV000169385 ; RCV001215871 ; RCV001250202 ; RCV002291587 ; RCV002307427 ; RCV003474911
• dbSNP Id: rs267608180
• gnomAD v2: 7-92123799-A-G
• gnomAD v4: 7-92494485-A-G
• MyVariant Identifiers: chr7:g.92123799A>G (hg19) ; chr7:g.92494485A>G (hg38)
• PubMed: PMID:11389485

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494485A>G , CM000669.2:g.92494485A>G	GRCh38
NC_000007.13:g.92123799A>G , CM000669.1:g.92123799A>G	GRCh37
NC_000007.12:g.91961735A>G	NCBI36
NG_008341.1:g.39047T>C
NG_008341.2:g.39047T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2926+2T>C (PEX1) MANE Select	ENSP00000248633.4:n.2926+2T>C
ENST00000248633.8:c.2926+2T>C (PEX1)	ENSP00000248633.4:n.2926+2T>C
ENST00000428214.5:c.2755+2T>C (PEX1)	ENSP00000394413.1:n.2755+2T>C
ENST00000438045.5:c.1960+2T>C (PEX1)	ENSP00000410438.1:n.1960+2T>C
ENST00000484913.5:n.2965+2T>C (PEX1)
ENST00000496420.5:n.2818+2T>C (PEX1)
NM_000466.2:c.2926+2T>C (PEX1)	NP_000457.1:n.2926+2T>C
NM_001282677.1:c.2755+2T>C (PEX1)	NP_001269606.1:n.2755+2T>C
NM_001282678.1:c.2302+2T>C (PEX1)	NP_001269607.1:n.2302+2T>C
XM_005250433.3:c.1177+2T>C (PEX1)	XP_005250490.1:n.1177+2T>C
XR_242246.3:n.3022+2T>C (PEX1)
XM_017012319.2:c.1177+2T>C (PEX1)	XP_016867808.1:n.1177+2T>C
XR_001744808.2:n.1953+2T>C (PEX1)
XR_001744843.2:n.5454A>G (GATAD1)
XR_242246.5:n.2973+2T>C (PEX1)
XR_927494.3:n.4305A>G (GATAD1)
XR_927503.3:n.4236A>G (GATAD1)
NM_000466.3:c.2926+2T>C (PEX1) MANE Select	NP_000457.1:n.2926+2T>C
NM_001282677.2:c.2755+2T>C (PEX1)	NP_001269606.1:n.2755+2T>C
NM_001282678.2:c.2302+2T>C (PEX1)	NP_001269607.1:n.2302+2T>C