Canonical Allele Identifier: CA1309027

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1406527
• ClinVar RCV Id: RCV001915867
• dbSNP Id: rs757796113
• ExAC: 1:197062316 A / T
• gnomAD v2: 1-197062316-A-T
• MyVariant Identifiers: chr1:g.197062316A>T (hg19) ; chr1:g.197093186A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093186A>T , CM000663.2:g.197093186A>T	GRCh38
NC_000001.10:g.197062316A>T , CM000663.1:g.197062316A>T	GRCh37
NC_000001.9:g.195328939A>T	NCBI36
NG_015867.1:g.58509T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2447T>A
ENST00000367409.9:c.9160T>A MANE Select	ENSP00000356379.4:p.Ser3054Thr
ENST00000680265.1:c.9382T>A	ENSP00000505384.1:p.Ser3128Thr
ENST00000680710.1:c.9160T>A	ENSP00000506676.1:p.Ser3054Thr
ENST00000294732.11:c.4405T>A	ENSP00000294732.7:p.Ser1469Thr
ENST00000367408.5:c.2155T>A	ENSP00000356378.1:p.Ser719Thr
ENST00000367409.8:c.9160T>A	ENSP00000356379.4:p.Ser3054Thr
ENST00000612785.1:c.3118T>A	ENSP00000479244.1:p.Ser1040Thr
NM_001206846.1:c.4405T>A	NP_001193775.1:p.Ser1469Thr
NM_018136.4:c.9160T>A	NP_060606.3:p.Ser3054Thr
NM_018136.5:c.9160T>A MANE Select	NP_060606.3:p.Ser3054Thr
NM_001206846.2:c.4405T>A	NP_001193775.1:p.Ser1469Thr