Canonical Allele Identifier: CA1309541

Gene: ASPM

Linked Data

• ClinVar Variation Id: 390477
• ClinVar RCV Id: RCV000710642 ; RCV000437446
• dbSNP Id: rs142587742
• ExAC: 1:197071679 T / C
• gnomAD v2: 1-197071679-T-C
• gnomAD v3: 1-197102549-T-C
• gnomAD v4: 1-197102549-T-C
• MyVariant Identifiers: chr1:g.197071679T>C (hg19) ; chr1:g.197102549T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102549T>C , CM000663.2:g.197102549T>C	GRCh38
NC_000001.10:g.197071679T>C , CM000663.1:g.197071679T>C	GRCh37
NC_000001.9:g.195338302T>C	NCBI36
NG_015867.1:g.49146A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6385A>G
ENST00000367409.9:c.6702A>G MANE Select	ENSP00000356379.4:p.Gln2234=
ENST00000680265.1:c.6702A>G	ENSP00000505384.1:p.Gln2234=
ENST00000680710.1:c.6702A>G	ENSP00000506676.1:p.Gln2234=
ENST00000294732.11:c.4066-6385A>G	ENSP00000294732.7:n.4066-6385A>G
ENST00000367408.5:c.1816-6385A>G	ENSP00000356378.1:n.1816-6385A>G
ENST00000367409.8:c.6702A>G	ENSP00000356379.4:p.Gln2234=
ENST00000612785.1:c.660A>G	ENSP00000479244.1:p.Gln220=
NM_001206846.1:c.4066-6385A>G	NP_001193775.1:n.4066-6385A>G
NM_018136.4:c.6702A>G	NP_060606.3:p.Gln2234=
NM_018136.5:c.6702A>G MANE Select	NP_060606.3:p.Gln2234=
NM_001206846.2:c.4066-6385A>G	NP_001193775.1:n.4066-6385A>G