Canonical Allele Identifier: CA1308804
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 507500
ClinVar RCV Id: RCV000609187 RCV000926519 RCV003451388
dbSNP Id: rs191340810
ExAC: 1:197057506 C / T
gnomAD v2: 1-197057506-C-T
gnomAD v3: 1-197088376-C-T
gnomAD v4: 1-197088376-C-T
MyVariant Identifiers: chr1:g.197057506C>T (hg19) chr1:g.197088376C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088376C>T , CM000663.2:g.197088376C>T GRCh38
NC_000001.10:g.197057506C>T , CM000663.1:g.197057506C>T GRCh37
NC_000001.9:g.195324129C>T NCBI36
NG_015867.1:g.63319G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3328G>A
ENST00000367409.9:c.10041G>A MANE Select ENSP00000356379.4:p.Leu3347=
ENST00000680265.1:c.10263G>A ENSP00000505384.1:p.Leu3421=
ENST00000680710.1:c.10017G>A ENSP00000506676.1:p.Leu3339=
ENST00000294732.11:c.5286G>A ENSP00000294732.7:p.Leu1762=
ENST00000367408.5:c.3036G>A ENSP00000356378.1:p.Leu1012=
ENST00000367409.8:c.10041G>A ENSP00000356379.4:p.Leu3347=
ENST00000612785.1:c.3999G>A ENSP00000479244.1:p.Leu1333=
NM_001206846.1:c.5286G>A NP_001193775.1:p.Leu1762=
NM_018136.4:c.10041G>A NP_060606.3:p.Leu3347=
NM_018136.5:c.10041G>A MANE Select NP_060606.3:p.Leu3347=
NM_001206846.2:c.5286G>A NP_001193775.1:p.Leu1762=
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