Canonical Allele Identifier: CA344001700

Gene: ASPM

Linked Data

• COSMIC: COSM678356
• MyVariant Identifiers: chr1:g.197059368A>T (hg19) ; chr1:g.197090238A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090238A>T , CM000663.2:g.197090238A>T	GRCh38
NC_000001.10:g.197059368A>T , CM000663.1:g.197059368A>T	GRCh37
NC_000001.9:g.195325991A>T	NCBI36
NG_015867.1:g.61457T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3074T>A
ENST00000367409.9:c.9787T>A MANE Select	ENSP00000356379.4:p.Tyr3263Asn
ENST00000680265.1:c.10009T>A	ENSP00000505384.1:p.Tyr3337Asn
ENST00000680710.1:c.9763T>A	ENSP00000506676.1:p.Tyr3255Asn
ENST00000294732.11:c.5032T>A	ENSP00000294732.7:p.Tyr1678Asn
ENST00000367408.5:c.2782T>A	ENSP00000356378.1:p.Tyr928Asn
ENST00000367409.8:c.9787T>A	ENSP00000356379.4:p.Tyr3263Asn
ENST00000612785.1:c.3745T>A	ENSP00000479244.1:p.Tyr1249Asn
NM_001206846.1:c.5032T>A	NP_001193775.1:p.Tyr1678Asn
NM_018136.4:c.9787T>A	NP_060606.3:p.Tyr3263Asn
NM_018136.5:c.9787T>A MANE Select	NP_060606.3:p.Tyr3263Asn
NM_001206846.2:c.5032T>A	NP_001193775.1:p.Tyr1678Asn