Canonical Allele Identifier: CA729743345

Gene: ASPM

Linked Data

• dbSNP Id: rs1394583298
• MyVariant Identifiers: chr1:g.197057268T>A (hg19) ; chr1:g.197088138T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088138T>A , CM000663.2:g.197088138T>A	GRCh38
NC_000001.10:g.197057268T>A , CM000663.1:g.197057268T>A	GRCh37
NC_000001.9:g.195323891T>A	NCBI36
NG_015867.1:g.63557A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3448+118A>T
ENST00000367409.9:c.10161+118A>T MANE Select	ENSP00000356379.4:n.10161+118A>T
ENST00000680265.1:c.10383+118A>T	ENSP00000505384.1:n.10383+118A>T
ENST00000680710.1:c.10137+118A>T	ENSP00000506676.1:n.10137+118A>T
ENST00000294732.11:c.5406+118A>T	ENSP00000294732.7:n.5406+118A>T
ENST00000367408.5:c.3156+118A>T	ENSP00000356378.1:n.3156+118A>T
ENST00000367409.8:c.10161+118A>T	ENSP00000356379.4:n.10161+118A>T
NM_001206846.1:c.5406+118A>T	NP_001193775.1:n.5406+118A>T
NM_018136.4:c.10161+118A>T	NP_060606.3:n.10161+118A>T
NM_018136.5:c.10161+118A>T MANE Select	NP_060606.3:n.10161+118A>T
NM_001206846.2:c.5406+118A>T	NP_001193775.1:n.5406+118A>T