Canonical Allele Identifier: CA344007704

Gene: ASPM

Linked Data

• dbSNP Id: rs1305041722
• gnomAD v2: 1-197062363-G-A
• gnomAD v4: 1-197093233-G-A
• MyVariant Identifiers: chr1:g.197062363G>A (hg19) ; chr1:g.197093233G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093233G>A , CM000663.2:g.197093233G>A	GRCh38
NC_000001.10:g.197062363G>A , CM000663.1:g.197062363G>A	GRCh37
NC_000001.9:g.195328986G>A	NCBI36
NG_015867.1:g.58462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2400C>T
ENST00000367409.9:c.9113C>T MANE Select	ENSP00000356379.4:p.Ala3038Val
ENST00000680265.1:c.9335C>T	ENSP00000505384.1:p.Ala3112Val
ENST00000680710.1:c.9113C>T	ENSP00000506676.1:p.Ala3038Val
ENST00000294732.11:c.4358C>T	ENSP00000294732.7:p.Ala1453Val
ENST00000367408.5:c.2108C>T	ENSP00000356378.1:p.Ala703Val
ENST00000367409.8:c.9113C>T	ENSP00000356379.4:p.Ala3038Val
ENST00000612785.1:c.3071C>T	ENSP00000479244.1:p.Ala1024Val
NM_001206846.1:c.4358C>T	NP_001193775.1:p.Ala1453Val
NM_018136.4:c.9113C>T	NP_060606.3:p.Ala3038Val
NM_018136.5:c.9113C>T MANE Select	NP_060606.3:p.Ala3038Val
NM_001206846.2:c.4358C>T	NP_001193775.1:p.Ala1453Val