Canonical Allele Identifier: CA1309316

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2174901
• ClinVar RCV Id: RCV002599019
• dbSNP Id: rs373350576
• ExAC: 1:197070455 C / T
• gnomAD v2: 1-197070455-C-T
• gnomAD v3: 1-197101325-C-T
• gnomAD v4: 1-197101325-C-T
• MyVariant Identifiers: chr1:g.197070455C>T (hg19) ; chr1:g.197101325C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101325C>T , CM000663.2:g.197101325C>T	GRCh38
NC_000001.10:g.197070455C>T , CM000663.1:g.197070455C>T	GRCh37
NC_000001.9:g.195337078C>T	NCBI36
NG_015867.1:g.50370G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5161G>A
ENST00000367409.9:c.7926G>A MANE Select	ENSP00000356379.4:p.Lys2642=
ENST00000680265.1:c.7926G>A	ENSP00000505384.1:p.Lys2642=
ENST00000680710.1:c.7926G>A	ENSP00000506676.1:p.Lys2642=
ENST00000294732.11:c.4066-5161G>A	ENSP00000294732.7:n.4066-5161G>A
ENST00000367408.5:c.1816-5161G>A	ENSP00000356378.1:n.1816-5161G>A
ENST00000367409.8:c.7926G>A	ENSP00000356379.4:p.Lys2642=
ENST00000612785.1:c.1884G>A	ENSP00000479244.1:p.Lys628=
NM_001206846.1:c.4066-5161G>A	NP_001193775.1:n.4066-5161G>A
NM_018136.4:c.7926G>A	NP_060606.3:p.Lys2642=
NM_018136.5:c.7926G>A MANE Select	NP_060606.3:p.Lys2642=
NM_001206846.2:c.4066-5161G>A	NP_001193775.1:n.4066-5161G>A