Canonical Allele Identifier: CA422673100

Gene: ASPM

Linked Data

• ClinVar Variation Id: 509213
• ClinVar RCV Id: RCV000614402
• dbSNP Id: rs1553326470
• MyVariant Identifiers: chr1:g.197062290A>G (hg19) ; chr1:g.197093160A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093160A>G , CM000663.2:g.197093160A>G	GRCh38
NC_000001.10:g.197062290A>G , CM000663.1:g.197062290A>G	GRCh37
NC_000001.9:g.195328913A>G	NCBI36
NG_015867.1:g.58535T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2473T>C
ENST00000367409.9:c.9186T>C MANE Select	ENSP00000356379.4:p.Tyr3062=
ENST00000680265.1:c.9408T>C	ENSP00000505384.1:p.Tyr3136=
ENST00000680710.1:c.9186T>C	ENSP00000506676.1:p.Tyr3062=
ENST00000294732.11:c.4431T>C	ENSP00000294732.7:p.Tyr1477=
ENST00000367408.5:c.2181T>C	ENSP00000356378.1:p.Tyr727=
ENST00000367409.8:c.9186T>C	ENSP00000356379.4:p.Tyr3062=
ENST00000612785.1:c.3144T>C	ENSP00000479244.1:p.Tyr1048=
NM_001206846.1:c.4431T>C	NP_001193775.1:p.Tyr1477=
NM_018136.4:c.9186T>C	NP_060606.3:p.Tyr3062=
NM_018136.5:c.9186T>C MANE Select	NP_060606.3:p.Tyr3062=
NM_001206846.2:c.4431T>C	NP_001193775.1:p.Tyr1477=