Canonical Allele Identifier: CA1309298

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1620634
• ClinVar RCV Id: RCV002099193
• dbSNP Id: rs587783276
• ExAC: 1:197070347 G / C
• gnomAD v2: 1-197070347-G-C
• gnomAD v3: 1-197101217-G-C
• gnomAD v4: 1-197101217-G-C
• MyVariant Identifiers: chr1:g.197070347G>C (hg19) ; chr1:g.197101217G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101217G>C , CM000663.2:g.197101217G>C	GRCh38
NC_000001.10:g.197070347G>C , CM000663.1:g.197070347G>C	GRCh37
NC_000001.9:g.195336970G>C	NCBI36
NG_015867.1:g.50478C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5053C>G
ENST00000367409.9:c.8034C>G MANE Select	ENSP00000356379.4:p.Gly2678=
ENST00000680265.1:c.8034C>G	ENSP00000505384.1:p.Gly2678=
ENST00000680710.1:c.8034C>G	ENSP00000506676.1:p.Gly2678=
ENST00000294732.11:c.4066-5053C>G	ENSP00000294732.7:n.4066-5053C>G
ENST00000367408.5:c.1816-5053C>G	ENSP00000356378.1:n.1816-5053C>G
ENST00000367409.8:c.8034C>G	ENSP00000356379.4:p.Gly2678=
ENST00000612785.1:c.1992C>G	ENSP00000479244.1:p.Gly664=
NM_001206846.1:c.4066-5053C>G	NP_001193775.1:n.4066-5053C>G
NM_018136.4:c.8034C>G	NP_060606.3:p.Gly2678=
NM_018136.5:c.8034C>G MANE Select	NP_060606.3:p.Gly2678=
NM_001206846.2:c.4066-5053C>G	NP_001193775.1:n.4066-5053C>G