Canonical Allele Identifier: CA344024750

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2443510
• ClinVar RCV Id: RCV003152117
• MyVariant Identifiers: chr1:g.197072687A>C (hg19) ; chr1:g.197103557A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103557A>C , CM000663.2:g.197103557A>C	GRCh38
NC_000001.10:g.197072687A>C , CM000663.1:g.197072687A>C	GRCh37
NC_000001.9:g.195339310A>C	NCBI36
NG_015867.1:g.48138T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7393T>G
ENST00000367409.9:c.5694T>G MANE Select	ENSP00000356379.4:p.His1898Gln
ENST00000680265.1:c.5694T>G	ENSP00000505384.1:p.His1898Gln
ENST00000680710.1:c.5694T>G	ENSP00000506676.1:p.His1898Gln
ENST00000294732.11:c.4066-7393T>G	ENSP00000294732.7:n.4066-7393T>G
ENST00000367408.5:c.1816-7393T>G	ENSP00000356378.1:n.1816-7393T>G
ENST00000367409.8:c.5694T>G	ENSP00000356379.4:p.His1898Gln
ENST00000612785.1:c.562-910T>G	ENSP00000479244.1:n.562-910T>G
NM_001206846.1:c.4066-7393T>G	NP_001193775.1:n.4066-7393T>G
NM_018136.4:c.5694T>G	NP_060606.3:p.His1898Gln
NM_018136.5:c.5694T>G MANE Select	NP_060606.3:p.His1898Gln
NM_001206846.2:c.4066-7393T>G	NP_001193775.1:n.4066-7393T>G