Canonical Allele Identifier: CA1310217

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1806107
• ClinVar RCV Id: RCV002470391
• dbSNP Id: rs771442227
• ExAC: 1:197093398 T / A
• gnomAD v2: 1-197093398-T-A
• gnomAD v4: 1-197124268-T-A
• MyVariant Identifiers: chr1:g.197093398T>A (hg19) ; chr1:g.197124268T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124268T>A , CM000663.2:g.197124268T>A	GRCh38
NC_000001.10:g.197093398T>A , CM000663.1:g.197093398T>A	GRCh37
NC_000001.9:g.195360021T>A	NCBI36
NG_015867.1:g.27427A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1274A>T
ENST00000367409.9:c.3232A>T MANE Select	ENSP00000356379.4:p.Ser1078Cys
ENST00000680112.1:n.1288A>T
ENST00000680265.1:c.3232A>T	ENSP00000505384.1:p.Ser1078Cys
ENST00000680710.1:c.3232A>T	ENSP00000506676.1:p.Ser1078Cys
ENST00000681879.1:c.3232A>T	ENSP00000505363.1:p.Ser1078Cys
ENST00000294732.11:c.3232A>T	ENSP00000294732.7:p.Ser1078Cys
ENST00000367408.5:c.982A>T	ENSP00000356378.1:p.Ser328Cys
ENST00000367409.8:c.3232A>T	ENSP00000356379.4:p.Ser1078Cys
ENST00000612785.1:c.561+19423A>T	ENSP00000479244.1:n.561+19423A>T
NM_001206846.1:c.3232A>T	NP_001193775.1:p.Ser1078Cys
NM_018136.4:c.3232A>T	NP_060606.3:p.Ser1078Cys
NM_018136.5:c.3232A>T MANE Select	NP_060606.3:p.Ser1078Cys
NM_001206846.2:c.3232A>T	NP_001193775.1:p.Ser1078Cys