Canonical Allele Identifier: CA343998432

Gene: ASPM

Linked Data

• gnomAD v4: 1-197088374-T-C
• MyVariant Identifiers: chr1:g.197057504T>C (hg19) ; chr1:g.197088374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088374T>C , CM000663.2:g.197088374T>C	GRCh38
NC_000001.10:g.197057504T>C , CM000663.1:g.197057504T>C	GRCh37
NC_000001.9:g.195324127T>C	NCBI36
NG_015867.1:g.63321A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3330A>G
ENST00000367409.9:c.10043A>G MANE Select	ENSP00000356379.4:p.Glu3348Gly
ENST00000680265.1:c.10265A>G	ENSP00000505384.1:p.Glu3422Gly
ENST00000680710.1:c.10019A>G	ENSP00000506676.1:p.Glu3340Gly
ENST00000294732.11:c.5288A>G	ENSP00000294732.7:p.Glu1763Gly
ENST00000367408.5:c.3038A>G	ENSP00000356378.1:p.Glu1013Gly
ENST00000367409.8:c.10043A>G	ENSP00000356379.4:p.Glu3348Gly
ENST00000612785.1:c.4001A>G	ENSP00000479244.1:p.Glu1334Gly
NM_001206846.1:c.5288A>G	NP_001193775.1:p.Glu1763Gly
NM_018136.4:c.10043A>G	NP_060606.3:p.Glu3348Gly
NM_018136.5:c.10043A>G MANE Select	NP_060606.3:p.Glu3348Gly
NM_001206846.2:c.5288A>G	NP_001193775.1:p.Glu1763Gly