Canonical Allele Identifier: CA344002317

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090864-T-C
• MyVariant Identifiers: chr1:g.197059994T>C (hg19) ; chr1:g.197090864T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090864T>C , CM000663.2:g.197090864T>C	GRCh38
NC_000001.10:g.197059994T>C , CM000663.1:g.197059994T>C	GRCh37
NC_000001.9:g.195326617T>C	NCBI36
NG_015867.1:g.60831A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2909A>G
ENST00000367409.9:c.9622A>G MANE Select	ENSP00000356379.4:p.Ile3208Val
ENST00000680265.1:c.9844A>G	ENSP00000505384.1:p.Ile3282Val
ENST00000680710.1:c.9598A>G	ENSP00000506676.1:p.Ile3200Val
ENST00000294732.11:c.4867A>G	ENSP00000294732.7:p.Ile1623Val
ENST00000367408.5:c.2617A>G	ENSP00000356378.1:p.Ile873Val
ENST00000367409.8:c.9622A>G	ENSP00000356379.4:p.Ile3208Val
ENST00000612785.1:c.3580A>G	ENSP00000479244.1:p.Ile1194Val
NM_001206846.1:c.4867A>G	NP_001193775.1:p.Ile1623Val
NM_018136.4:c.9622A>G	NP_060606.3:p.Ile3208Val
NM_018136.5:c.9622A>G MANE Select	NP_060606.3:p.Ile3208Val
NM_001206846.2:c.4867A>G	NP_001193775.1:p.Ile1623Val