Canonical Allele Identifier: CA1310422
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197130035A>G
GRCh37 chr1:g.197099165A>G
Revel Score:
ENST00000367409 (MANE Select) 0.053
ENST00000294732 0.053
ENST00000367408 0.053
gnomAD v2:
1:197099165 A / G
gnomAD v3:
1:197130035 A / G
gnomAD v4:
chr1-197130035-A-G
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000531 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197130035A>G , CM000663.2:g.197130035A>G GRCh38
NC_000001.10:g.197099165A>G , CM000663.1:g.197099165A>G GRCh37
NC_000001.9:g.195365788A>G NCBI36
NG_015867.1:g.21660T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.2509T>C MANE Select ENSP00000356379.4:p.Ser837Pro
ENST00000680112.1:n.565T>C
ENST00000680265.1:c.2509T>C ENSP00000505384.1:p.Ser837Pro
ENST00000680710.1:c.2509T>C ENSP00000506676.1:p.Ser837Pro
ENST00000681879.1:c.2509T>C ENSP00000505363.1:p.Ser837Pro
ENST00000294732.11:c.2509T>C ENSP00000294732.7:p.Ser837Pro
ENST00000367408.5:c.259T>C ENSP00000356378.1:p.Ser87Pro
ENST00000367409.8:c.2509T>C ENSP00000356379.4:p.Ser837Pro
ENST00000612785.1:c.561+13656T>C ENSP00000479244.1:n.561+13656T>C
NM_001206846.1:c.2509T>C NP_001193775.1:p.Ser837Pro
NM_018136.4:c.2509T>C NP_060606.3:p.Ser837Pro
NM_018136.5:c.2509T>C MANE Select NP_060606.3:p.Ser837Pro
NM_001206846.2:c.2509T>C NP_001193775.1:p.Ser837Pro
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