Canonical Allele Identifier: CA343998235

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057483T>G (hg19) ; chr1:g.197088353T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088353T>G , CM000663.2:g.197088353T>G	GRCh38
NC_000001.10:g.197057483T>G , CM000663.1:g.197057483T>G	GRCh37
NC_000001.9:g.195324106T>G	NCBI36
NG_015867.1:g.63342A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3351A>C
ENST00000367409.9:c.10064A>C MANE Select	ENSP00000356379.4:p.Glu3355Ala
ENST00000680265.1:c.10286A>C	ENSP00000505384.1:p.Glu3429Ala
ENST00000680710.1:c.10040A>C	ENSP00000506676.1:p.Glu3347Ala
ENST00000294732.11:c.5309A>C	ENSP00000294732.7:p.Glu1770Ala
ENST00000367408.5:c.3059A>C	ENSP00000356378.1:p.Glu1020Ala
ENST00000367409.8:c.10064A>C	ENSP00000356379.4:p.Glu3355Ala
ENST00000612785.1:c.4022A>C	ENSP00000479244.1:p.Glu1341Ala
NM_001206846.1:c.5309A>C	NP_001193775.1:p.Glu1770Ala
NM_018136.4:c.10064A>C	NP_060606.3:p.Glu3355Ala
NM_018136.5:c.10064A>C MANE Select	NP_060606.3:p.Glu3355Ala
NM_001206846.2:c.5309A>C	NP_001193775.1:p.Glu1770Ala