Canonical Allele Identifier: CA171257

Gene: ASPM

Linked Data

• ClinVar Variation Id: 157878
• ClinVar RCV Id: RCV000145197 ; RCV000393841 ; RCV000513997
• dbSNP Id: rs79572771
• ExAC: 1:197070594 A / G
• gnomAD v2: 1-197070594-A-G
• gnomAD v3: 1-197101464-A-G
• gnomAD v4: 1-197101464-A-G
• MyVariant Identifiers: chr1:g.197070594A>G (hg19) ; chr1:g.197070594_197070598delinsGCTTT (hg19) ; chr1:g.197101464A>G (hg38) ; chr1:g.197101464_197101468delinsGCTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101464A>G , CM000663.2:g.197101464A>G	GRCh38
NC_000001.10:g.197070594A>G , CM000663.1:g.197070594A>G	GRCh37
NC_000001.9:g.195337217A>G	NCBI36
NG_015867.1:g.50231T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-5300T>C
ENST00000367409.9:c.7787T>C MANE Select	ENSP00000356379.4:p.Val2596Ala
ENST00000680265.1:c.7787T>C	ENSP00000505384.1:p.Val2596Ala
ENST00000680710.1:c.7787T>C	ENSP00000506676.1:p.Val2596Ala
ENST00000294732.11:c.4066-5300T>C	ENSP00000294732.7:n.4066-5300T>C
ENST00000367408.5:c.1816-5300T>C	ENSP00000356378.1:n.1816-5300T>C
ENST00000367409.8:c.7787T>C	ENSP00000356379.4:p.Val2596Ala
ENST00000612785.1:c.1745T>C	ENSP00000479244.1:p.Val582Ala
NM_001206846.1:c.4066-5300T>C	NP_001193775.1:n.4066-5300T>C
NM_018136.4:c.7787T>C	NP_060606.3:p.Val2596Ala
NM_018136.5:c.7787T>C MANE Select	NP_060606.3:p.Val2596Ala
NM_001206846.2:c.4066-5300T>C	NP_001193775.1:n.4066-5300T>C