Canonical Allele Identifier: CA4340911

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 288256
• ClinVar RCV Id: RCV000298949 ; RCV000345924 ; RCV000766589 ; RCV001277301 ; RCV003977800
• dbSNP Id: rs141650598
• ExAC: 7:92122443 C / T
• gnomAD v2: 7-92122443-C-T
• gnomAD v3: 7-92493129-C-T
• gnomAD v4: 7-92493129-C-T
• MyVariant Identifiers: chr7:g.92122443C>T (hg19) ; chr7:g.92493129C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493129C>T , CM000669.2:g.92493129C>T	GRCh38
NC_000007.13:g.92122443C>T , CM000669.1:g.92122443C>T	GRCh37
NC_000007.12:g.91960379C>T	NCBI36
NG_008341.1:g.40403G>A
NG_008341.2:g.40403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3031G>A (PEX1) MANE Select	ENSP00000248633.4:p.Val1011Met
ENST00000248633.8:c.3031G>A (PEX1)	ENSP00000248633.4:p.Val1011Met
ENST00000428214.5:c.2860G>A (PEX1)	ENSP00000394413.1:p.Val954Met
ENST00000438045.5:c.2065G>A (PEX1)	ENSP00000410438.1:p.Val689Met
ENST00000484913.5:n.3070G>A (PEX1)
ENST00000496420.5:n.4086G>A (PEX1)
NM_000466.2:c.3031G>A (PEX1)	NP_000457.1:p.Val1011Met
NM_001282677.1:c.2860G>A (PEX1)	NP_001269606.1:p.Val954Met
NM_001282678.1:c.2407G>A (PEX1)	NP_001269607.1:p.Val803Met
XM_005250433.3:c.1282G>A (PEX1)	XP_005250490.1:p.Val428Met
XR_242246.3:n.3127G>A (PEX1)
XM_017012319.2:c.1282G>A (PEX1)	XP_016867808.1:p.Val428Met
XR_001744808.2:n.2058G>A (PEX1)
XR_001744842.2:n.4167C>T (GATAD1)
XR_001744843.2:n.4098C>T (GATAD1)
XR_002956472.1:n.4224C>T (GATAD1)
XR_002956473.1:n.4255C>T (GATAD1)
XR_002956474.1:n.4172C>T (GATAD1)
XR_242246.5:n.3078G>A (PEX1)
XR_927494.3:n.2949C>T (GATAD1)
XR_927500.3:n.2946C>T (GATAD1)
XR_927503.3:n.2880C>T (GATAD1)
NM_000466.3:c.3031G>A (PEX1) MANE Select	NP_000457.1:p.Val1011Met
NM_001282677.2:c.2860G>A (PEX1)	NP_001269606.1:p.Val954Met
NM_001282678.2:c.2407G>A (PEX1)	NP_001269607.1:p.Val803Met