Canonical Allele Identifier: CA35861079
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 1982299
ClinVar RCV Id: RCV002766683
dbSNP Id: rs1009847855
gnomAD v2: 1-197111922-G-A
gnomAD v3: 1-197142792-G-A
gnomAD v4: 1-197142792-G-A
MyVariant Identifiers: chr1:g.197111922G>A (hg19) chr1:g.197111922_197111925delinsAGTT (hg19) chr1:g.197142792G>A (hg38) chr1:g.197142792_197142795delinsAGTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142792G>A , CM000663.2:g.197142792G>A GRCh38
NC_000001.10:g.197111922G>A , CM000663.1:g.197111922G>A GRCh37
NC_000001.9:g.195378545G>A NCBI36
NG_015867.1:g.8903C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1460C>T MANE Select ENSP00000356379.4:p.Pro487Leu
ENST00000679766.1:n.1677C>T
ENST00000680265.1:c.1460C>T ENSP00000505384.1:p.Pro487Leu
ENST00000680710.1:c.1460C>T ENSP00000506676.1:p.Pro487Leu
ENST00000681879.1:c.1460C>T ENSP00000505363.1:p.Pro487Leu
ENST00000294732.11:c.1460C>T ENSP00000294732.7:p.Pro487Leu
ENST00000367409.8:c.1460C>T ENSP00000356379.4:p.Pro487Leu
ENST00000612785.1:c.561+899C>T ENSP00000479244.1:n.561+899C>T
NM_001206846.1:c.1460C>T NP_001193775.1:p.Pro487Leu
NM_018136.4:c.1460C>T NP_060606.3:p.Pro487Leu
NM_018136.5:c.1460C>T MANE Select NP_060606.3:p.Pro487Leu
NM_001206846.2:c.1460C>T NP_001193775.1:p.Pro487Leu
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