Canonical Allele Identifier: CA343998428

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057504T>G (hg19) ; chr1:g.197088374T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3330A>C
ENST00000367409.9:c.10043A>C MANE Select	ENSP00000356379.4:p.Glu3348Ala
ENST00000680265.1:c.10265A>C	ENSP00000505384.1:p.Glu3422Ala
ENST00000680710.1:c.10019A>C	ENSP00000506676.1:p.Glu3340Ala
ENST00000294732.11:c.5288A>C	ENSP00000294732.7:p.Glu1763Ala
ENST00000367408.5:c.3038A>C	ENSP00000356378.1:p.Glu1013Ala
ENST00000367409.8:c.10043A>C	ENSP00000356379.4:p.Glu3348Ala
ENST00000612785.1:c.4001A>C	ENSP00000479244.1:p.Glu1334Ala
NM_001206846.1:c.5288A>C	NP_001193775.1:p.Glu1763Ala
NM_018136.4:c.10043A>C	NP_060606.3:p.Glu3348Ala
NM_018136.5:c.10043A>C MANE Select	NP_060606.3:p.Glu3348Ala
NM_001206846.2:c.5288A>C	NP_001193775.1:p.Glu1763Ala