Canonical Allele Identifier: CA344001689

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059364T>A (hg19) ; chr1:g.197090234T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090234T>A , CM000663.2:g.197090234T>A	GRCh38
NC_000001.10:g.197059364T>A , CM000663.1:g.197059364T>A	GRCh37
NC_000001.9:g.195325987T>A	NCBI36
NG_015867.1:g.61461A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3078A>T
ENST00000367409.9:c.9791A>T MANE Select	ENSP00000356379.4:p.Lys3264Met
ENST00000680265.1:c.10013A>T	ENSP00000505384.1:p.Lys3338Met
ENST00000680710.1:c.9767A>T	ENSP00000506676.1:p.Lys3256Met
ENST00000294732.11:c.5036A>T	ENSP00000294732.7:p.Lys1679Met
ENST00000367408.5:c.2786A>T	ENSP00000356378.1:p.Lys929Met
ENST00000367409.8:c.9791A>T	ENSP00000356379.4:p.Lys3264Met
ENST00000612785.1:c.3749A>T	ENSP00000479244.1:p.Lys1250Met
NM_001206846.1:c.5036A>T	NP_001193775.1:p.Lys1679Met
NM_018136.4:c.9791A>T	NP_060606.3:p.Lys3264Met
NM_018136.5:c.9791A>T MANE Select	NP_060606.3:p.Lys3264Met
NM_001206846.2:c.5036A>T	NP_001193775.1:p.Lys1679Met