Canonical Allele Identifier: CA1309022

Gene: ASPM

Linked Data

• ClinVar Variation Id: 3130505
• ClinVar RCV Id: RCV004422902
• dbSNP Id: rs752372677
• ExAC: 1:197062302 G / C
• gnomAD v2: 1-197062302-G-C
• gnomAD v4: 1-197093172-G-C
• MyVariant Identifiers: chr1:g.197062302G>C (hg19) ; chr1:g.197093172G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093172G>C , CM000663.2:g.197093172G>C	GRCh38
NC_000001.10:g.197062302G>C , CM000663.1:g.197062302G>C	GRCh37
NC_000001.9:g.195328925G>C	NCBI36
NG_015867.1:g.58523C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2461C>G
ENST00000367409.9:c.9174C>G MANE Select	ENSP00000356379.4:p.Ile3058Met
ENST00000680265.1:c.9396C>G	ENSP00000505384.1:p.Ile3132Met
ENST00000680710.1:c.9174C>G	ENSP00000506676.1:p.Ile3058Met
ENST00000294732.11:c.4419C>G	ENSP00000294732.7:p.Ile1473Met
ENST00000367408.5:c.2169C>G	ENSP00000356378.1:p.Ile723Met
ENST00000367409.8:c.9174C>G	ENSP00000356379.4:p.Ile3058Met
ENST00000612785.1:c.3132C>G	ENSP00000479244.1:p.Ile1044Met
NM_001206846.1:c.4419C>G	NP_001193775.1:p.Ile1473Met
NM_018136.4:c.9174C>G	NP_060606.3:p.Ile3058Met
NM_018136.5:c.9174C>G MANE Select	NP_060606.3:p.Ile3058Met
NM_001206846.2:c.4419C>G	NP_001193775.1:p.Ile1473Met