Canonical Allele Identifier: CA344003382

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060124A>T (hg19) ; chr1:g.197090994A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090994A>T , CM000663.2:g.197090994A>T	GRCh38
NC_000001.10:g.197060124A>T , CM000663.1:g.197060124A>T	GRCh37
NC_000001.9:g.195326747A>T	NCBI36
NG_015867.1:g.60701T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2779T>A
ENST00000367409.9:c.9492T>A MANE Select	ENSP00000356379.4:p.Tyr3164Ter
ENST00000680265.1:c.9714T>A	ENSP00000505384.1:p.Tyr3238Ter
ENST00000680710.1:c.9468T>A	ENSP00000506676.1:p.Tyr3156Ter
ENST00000294732.11:c.4737T>A	ENSP00000294732.7:p.Tyr1579Ter
ENST00000367408.5:c.2487T>A	ENSP00000356378.1:p.Tyr829Ter
ENST00000367409.8:c.9492T>A	ENSP00000356379.4:p.Tyr3164Ter
ENST00000612785.1:c.3450T>A	ENSP00000479244.1:p.Tyr1150Ter
NM_001206846.1:c.4737T>A	NP_001193775.1:p.Tyr1579Ter
NM_018136.4:c.9492T>A	NP_060606.3:p.Tyr3164Ter
NM_018136.5:c.9492T>A MANE Select	NP_060606.3:p.Tyr3164Ter
NM_001206846.2:c.4737T>A	NP_001193775.1:p.Tyr1579Ter