Canonical Allele Identifier: CA271019
Gene: ASPM HGNC NCBI
ClinVar RCV:
RCV000145104
RCV000279948
RCV000909960
RCV003952696
ClinVar Variation:
157798
dbSNP:
552158003
gnomAD v2:
1:197097642 A / C
gnomAD v3:
1:197128512 A / C
gnomAD v4:
chr1-197128512-A-C
Joint Max Group AF 0.00218848 (AMR)
Genomes Max Group AF 0.00021475 (AMR)
Exomes Max Group AF 0.0027915 (AMR)
MyVariant.info:
GRCh38 chr1:g.197128512A>C
GRCh37 chr1:g.197097642A>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197128512A>C , CM000663.2:g.197128512A>C GRCh38
NC_000001.10:g.197097642A>C , CM000663.1:g.197097642A>C GRCh37
NC_000001.9:g.195364265A>C NCBI36
NG_015867.1:g.23183T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.866T>G
ENST00000367409.9:c.2914T>G MANE Select ENSP00000356379.4:p.Leu972Val
ENST00000680112.1:n.970T>G
ENST00000680265.1:c.2914T>G ENSP00000505384.1:p.Leu972Val
ENST00000680710.1:c.2914T>G ENSP00000506676.1:p.Leu972Val
ENST00000681879.1:c.2914T>G ENSP00000505363.1:p.Leu972Val
ENST00000294732.11:c.2914T>G ENSP00000294732.7:p.Leu972Val
ENST00000367408.5:c.664T>G ENSP00000356378.1:p.Leu222Val
ENST00000367409.8:c.2914T>G ENSP00000356379.4:p.Leu972Val
ENST00000612785.1:c.561+15179T>G ENSP00000479244.1:n.561+15179T>G
NM_001206846.1:c.2914T>G NP_001193775.1:p.Leu972Val
NM_018136.4:c.2914T>G NP_060606.3:p.Leu972Val
NM_018136.5:c.2914T>G MANE Select NP_060606.3:p.Leu972Val
NM_001206846.2:c.2914T>G NP_001193775.1:p.Leu972Val
Search 100 bp 5'
Search 100 bp 3'