Canonical Allele Identifier: CA161952082

Linked Data

ClinVar Variation Id: 2174721
ClinVar RCV Id: RCV002588097
dbSNP Id: rs1030880599
gnomAD v4: 7-92489708-C-G
MyVariant Identifiers: chr7:g.92489708C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489708C>G , CM000669.2:g.92489708C>G GRCh38
NC_000007.13:g.92119022C>G , CM000669.1:g.92119022C>G GRCh37
NC_000007.12:g.91956958C>G NCBI36
NG_008341.1:g.43824G>C
NG_008341.2:g.43824G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3636+6G>C (PEX1) MANE Select ENSP00000248633.4:n.3636+6G>C
ENST00000248633.8:c.3636+6G>C (PEX1) ENSP00000248633.4:n.3636+6G>C
ENST00000428214.5:c.3465+6G>C (PEX1) ENSP00000394413.1:n.3465+6G>C
ENST00000438045.5:c.2670+6G>C (PEX1) ENSP00000410438.1:n.2670+6G>C
ENST00000469417.1:n.533+6G>C (PEX1)
ENST00000477342.1:n.87G>C (PEX1)
ENST00000484913.5:n.3675+6G>C (PEX1)
ENST00000496420.5:n.4686+11G>C (PEX1)
NM_000466.2:c.3636+6G>C (PEX1) NP_000457.1:n.3636+6G>C
NM_001282677.1:c.3465+6G>C (PEX1) NP_001269606.1:n.3465+6G>C
NM_001282678.1:c.3012+6G>C (PEX1) NP_001269607.1:n.3012+6G>C
XM_005250433.3:c.1887+6G>C (PEX1) XP_005250490.1:n.1887+6G>C
XR_242246.3:n.3727+11G>C (PEX1)
XR_927494.1:n.1036-1535C>G (GATAD1)
XR_927495.1:n.1036-378C>G (GATAD1)
XR_927496.1:n.1041-1535C>G (GATAD1)
XR_927497.1:n.1036-378C>G (GATAD1)
XR_927498.1:n.1124-1535C>G (GATAD1)
XR_927500.1:n.1033-1535C>G (GATAD1)
XR_927502.1:n.1033-378C>G (GATAD1)
XR_927503.1:n.967-1535C>G (GATAD1)
XM_017012319.2:c.1887+6G>C (PEX1) XP_016867808.1:n.1887+6G>C
XR_001744808.2:n.2658+11G>C (PEX1)
XR_001744842.2:n.2281-1535C>G (GATAD1)
XR_001744843.2:n.2212-1535C>G (GATAD1)
XR_002956472.1:n.2281-378C>G (GATAD1)
XR_002956473.1:n.2369-1535C>G (GATAD1)
XR_002956474.1:n.2286-1535C>G (GATAD1)
XR_242246.5:n.3678+11G>C (PEX1)
XR_927494.3:n.1063-1535C>G (GATAD1)
XR_927500.3:n.1060-1535C>G (GATAD1)
XR_927503.3:n.994-1535C>G (GATAD1)
NM_000466.3:c.3636+6G>C (PEX1) MANE Select NP_000457.1:n.3636+6G>C
NM_001282677.2:c.3465+6G>C (PEX1) NP_001269606.1:n.3465+6G>C
NM_001282678.2:c.3012+6G>C (PEX1) NP_001269607.1:n.3012+6G>C