Canonical Allele Identifier: CA344001699

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090238-A-C
• MyVariant Identifiers: chr1:g.197059368A>C (hg19) ; chr1:g.197090238A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3074T>G
ENST00000367409.9:c.9787T>G MANE Select	ENSP00000356379.4:p.Tyr3263Asp
ENST00000680265.1:c.10009T>G	ENSP00000505384.1:p.Tyr3337Asp
ENST00000680710.1:c.9763T>G	ENSP00000506676.1:p.Tyr3255Asp
ENST00000294732.11:c.5032T>G	ENSP00000294732.7:p.Tyr1678Asp
ENST00000367408.5:c.2782T>G	ENSP00000356378.1:p.Tyr928Asp
ENST00000367409.8:c.9787T>G	ENSP00000356379.4:p.Tyr3263Asp
ENST00000612785.1:c.3745T>G	ENSP00000479244.1:p.Tyr1249Asp
NM_001206846.1:c.5032T>G	NP_001193775.1:p.Tyr1678Asp
NM_018136.4:c.9787T>G	NP_060606.3:p.Tyr3263Asp
NM_018136.5:c.9787T>G MANE Select	NP_060606.3:p.Tyr3263Asp
NM_001206846.2:c.5032T>G	NP_001193775.1:p.Tyr1678Asp