Canonical Allele Identifier: CA1309816

Gene: ASPM

Linked Data

• dbSNP Id: rs777929585
• ExAC: 1:197073299 T / A
• gnomAD v2: 1-197073299-T-A
• gnomAD v3: 1-197104169-T-A
• gnomAD v4: 1-197104169-T-A
• MyVariant Identifiers: chr1:g.197073299T>A (hg19) ; chr1:g.197104169T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104169T>A , CM000663.2:g.197104169T>A	GRCh38
NC_000001.10:g.197073299T>A , CM000663.1:g.197073299T>A	GRCh37
NC_000001.9:g.195339922T>A	NCBI36
NG_015867.1:g.47526A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8005A>T
ENST00000367409.9:c.5082A>T MANE Select	ENSP00000356379.4:p.Thr1694=
ENST00000680265.1:c.5082A>T	ENSP00000505384.1:p.Thr1694=
ENST00000680710.1:c.5082A>T	ENSP00000506676.1:p.Thr1694=
ENST00000294732.11:c.4066-8005A>T	ENSP00000294732.7:n.4066-8005A>T
ENST00000367408.5:c.1816-8005A>T	ENSP00000356378.1:n.1816-8005A>T
ENST00000367409.8:c.5082A>T	ENSP00000356379.4:p.Thr1694=
ENST00000612785.1:c.562-1522A>T	ENSP00000479244.1:n.562-1522A>T
NM_001206846.1:c.4066-8005A>T	NP_001193775.1:n.4066-8005A>T
NM_018136.4:c.5082A>T	NP_060606.3:p.Thr1694=
NM_018136.5:c.5082A>T MANE Select	NP_060606.3:p.Thr1694=
NM_001206846.2:c.4066-8005A>T	NP_001193775.1:n.4066-8005A>T