Canonical Allele Identifier: CA1310784

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2459213
• ClinVar RCV Id: RCV003179305
• dbSNP Id: rs779132724
• ExAC: 1:197112405 T / G
• gnomAD v2: 1-197112405-T-G
• gnomAD v3: 1-197143275-T-G
• gnomAD v4: 1-197143275-T-G
• MyVariant Identifiers: chr1:g.197112405T>G (hg19) ; chr1:g.197143275T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143275T>G , CM000663.2:g.197143275T>G	GRCh38
NC_000001.10:g.197112405T>G , CM000663.1:g.197112405T>G	GRCh37
NC_000001.9:g.195379028T>G	NCBI36
NG_015867.1:g.8420A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.977A>C MANE Select	ENSP00000356379.4:p.His326Pro
ENST00000679766.1:n.1194A>C
ENST00000680265.1:c.977A>C	ENSP00000505384.1:p.His326Pro
ENST00000680710.1:c.977A>C	ENSP00000506676.1:p.His326Pro
ENST00000681879.1:c.977A>C	ENSP00000505363.1:p.His326Pro
ENST00000294732.11:c.977A>C	ENSP00000294732.7:p.His326Pro
ENST00000367409.8:c.977A>C	ENSP00000356379.4:p.His326Pro
ENST00000612785.1:c.561+416A>C	ENSP00000479244.1:n.561+416A>C
NM_001206846.1:c.977A>C	NP_001193775.1:p.His326Pro
NM_018136.4:c.977A>C	NP_060606.3:p.His326Pro
NM_018136.5:c.977A>C MANE Select	NP_060606.3:p.His326Pro
NM_001206846.2:c.977A>C	NP_001193775.1:p.His326Pro