Canonical Allele Identifier: CA1309281

Gene: ASPM

Linked Data

• dbSNP Id: rs776581682
• ExAC: 1:197070225 T / C
• gnomAD v2: 1-197070225-T-C
• gnomAD v3: 1-197101095-T-C
• gnomAD v4: 1-197101095-T-C
• MyVariant Identifiers: chr1:g.197070225T>C (hg19) ; chr1:g.197101095T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101095T>C , CM000663.2:g.197101095T>C	GRCh38
NC_000001.10:g.197070225T>C , CM000663.1:g.197070225T>C	GRCh37
NC_000001.9:g.195336848T>C	NCBI36
NG_015867.1:g.50600A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4931A>G
ENST00000367409.9:c.8156A>G MANE Select	ENSP00000356379.4:p.Gln2719Arg
ENST00000680265.1:c.8156A>G	ENSP00000505384.1:p.Gln2719Arg
ENST00000680710.1:c.8156A>G	ENSP00000506676.1:p.Gln2719Arg
ENST00000294732.11:c.4066-4931A>G	ENSP00000294732.7:n.4066-4931A>G
ENST00000367408.5:c.1816-4931A>G	ENSP00000356378.1:n.1816-4931A>G
ENST00000367409.8:c.8156A>G	ENSP00000356379.4:p.Gln2719Arg
ENST00000612785.1:c.2114A>G	ENSP00000479244.1:p.Gln705Arg
NM_001206846.1:c.4066-4931A>G	NP_001193775.1:n.4066-4931A>G
NM_018136.4:c.8156A>G	NP_060606.3:p.Gln2719Arg
NM_018136.5:c.8156A>G MANE Select	NP_060606.3:p.Gln2719Arg
NM_001206846.2:c.4066-4931A>G	NP_001193775.1:n.4066-4931A>G