Canonical Allele Identifier: CA344006799

Gene: ASPM

Linked Data

• gnomAD v4: 1-197093093-T-C
• MyVariant Identifiers: chr1:g.197062223T>C (hg19) ; chr1:g.197093093T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093093T>C , CM000663.2:g.197093093T>C	GRCh38
NC_000001.10:g.197062223T>C , CM000663.1:g.197062223T>C	GRCh37
NC_000001.9:g.195328846T>C	NCBI36
NG_015867.1:g.58602A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2540A>G
ENST00000367409.9:c.9253A>G MANE Select	ENSP00000356379.4:p.Ile3085Val
ENST00000680265.1:c.9475A>G	ENSP00000505384.1:p.Ile3159Val
ENST00000680710.1:c.9253A>G	ENSP00000506676.1:p.Ile3085Val
ENST00000294732.11:c.4498A>G	ENSP00000294732.7:p.Ile1500Val
ENST00000367408.5:c.2248A>G	ENSP00000356378.1:p.Ile750Val
ENST00000367409.8:c.9253A>G	ENSP00000356379.4:p.Ile3085Val
ENST00000612785.1:c.3211A>G	ENSP00000479244.1:p.Ile1071Val
NM_001206846.1:c.4498A>G	NP_001193775.1:p.Ile1500Val
NM_018136.4:c.9253A>G	NP_060606.3:p.Ile3085Val
NM_018136.5:c.9253A>G MANE Select	NP_060606.3:p.Ile3085Val
NM_001206846.2:c.4498A>G	NP_001193775.1:p.Ile1500Val