Canonical Allele Identifier: CA344007625

Gene: ASPM

Linked Data

• dbSNP Id: rs1333580829
• gnomAD v2: 1-197062351-C-A
• gnomAD v4: 1-197093221-C-A
• MyVariant Identifiers: chr1:g.197062351C>A (hg19) ; chr1:g.197093221C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093221C>A , CM000663.2:g.197093221C>A	GRCh38
NC_000001.10:g.197062351C>A , CM000663.1:g.197062351C>A	GRCh37
NC_000001.9:g.195328974C>A	NCBI36
NG_015867.1:g.58474G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2412G>T
ENST00000367409.9:c.9125G>T MANE Select	ENSP00000356379.4:p.Gly3042Val
ENST00000680265.1:c.9347G>T	ENSP00000505384.1:p.Gly3116Val
ENST00000680710.1:c.9125G>T	ENSP00000506676.1:p.Gly3042Val
ENST00000294732.11:c.4370G>T	ENSP00000294732.7:p.Gly1457Val
ENST00000367408.5:c.2120G>T	ENSP00000356378.1:p.Gly707Val
ENST00000367409.8:c.9125G>T	ENSP00000356379.4:p.Gly3042Val
ENST00000612785.1:c.3083G>T	ENSP00000479244.1:p.Gly1028Val
NM_001206846.1:c.4370G>T	NP_001193775.1:p.Gly1457Val
NM_018136.4:c.9125G>T	NP_060606.3:p.Gly3042Val
NM_018136.5:c.9125G>T MANE Select	NP_060606.3:p.Gly3042Val
NM_001206846.2:c.4370G>T	NP_001193775.1:p.Gly1457Val