Canonical Allele Identifier: CA1309937

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2002690
• ClinVar RCV Id: RCV002824785
• dbSNP Id: rs747854626
• ExAC: 1:197073972 A / G
• gnomAD v2: 1-197073972-A-G
• gnomAD v4: 1-197104842-A-G
• MyVariant Identifiers: chr1:g.197073972A>G (hg19) ; chr1:g.197104842A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104842A>G , CM000663.2:g.197104842A>G	GRCh38
NC_000001.10:g.197073972A>G , CM000663.1:g.197073972A>G	GRCh37
NC_000001.9:g.195340595A>G	NCBI36
NG_015867.1:g.46853T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-8678T>C
ENST00000367409.9:c.4409T>C MANE Select	ENSP00000356379.4:p.Ile1470Thr
ENST00000680265.1:c.4409T>C	ENSP00000505384.1:p.Ile1470Thr
ENST00000680710.1:c.4409T>C	ENSP00000506676.1:p.Ile1470Thr
ENST00000681879.1:c.4457T>C	ENSP00000505363.1:n.4457T>C
ENST00000294732.11:c.4066-8678T>C	ENSP00000294732.7:n.4066-8678T>C
ENST00000367408.5:c.1816-8678T>C	ENSP00000356378.1:n.1816-8678T>C
ENST00000367409.8:c.4409T>C	ENSP00000356379.4:p.Ile1470Thr
ENST00000612785.1:c.562-2195T>C	ENSP00000479244.1:n.562-2195T>C
NM_001206846.1:c.4066-8678T>C	NP_001193775.1:n.4066-8678T>C
NM_018136.4:c.4409T>C	NP_060606.3:p.Ile1470Thr
NM_018136.5:c.4409T>C MANE Select	NP_060606.3:p.Ile1470Thr
NM_001206846.2:c.4066-8678T>C	NP_001193775.1:n.4066-8678T>C