Canonical Allele Identifier: CA344027431

Gene: ASPM

Linked Data

• ClinVar Variation Id: 3130483
• ClinVar RCV Id: RCV004420898
• dbSNP Id: rs1557947641
• gnomAD v4: 1-197104103-T-A
• MyVariant Identifiers: chr1:g.197073233T>A (hg19) ; chr1:g.197104103T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104103T>A , CM000663.2:g.197104103T>A	GRCh38
NC_000001.10:g.197073233T>A , CM000663.1:g.197073233T>A	GRCh37
NC_000001.9:g.195339856T>A	NCBI36
NG_015867.1:g.47592A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7939A>T
ENST00000367409.9:c.5148A>T MANE Select	ENSP00000356379.4:p.Lys1716Asn
ENST00000680265.1:c.5148A>T	ENSP00000505384.1:p.Lys1716Asn
ENST00000680710.1:c.5148A>T	ENSP00000506676.1:p.Lys1716Asn
ENST00000294732.11:c.4066-7939A>T	ENSP00000294732.7:n.4066-7939A>T
ENST00000367408.5:c.1816-7939A>T	ENSP00000356378.1:n.1816-7939A>T
ENST00000367409.8:c.5148A>T	ENSP00000356379.4:p.Lys1716Asn
ENST00000612785.1:c.562-1456A>T	ENSP00000479244.1:n.562-1456A>T
NM_001206846.1:c.4066-7939A>T	NP_001193775.1:n.4066-7939A>T
NM_018136.4:c.5148A>T	NP_060606.3:p.Lys1716Asn
NM_018136.5:c.5148A>T MANE Select	NP_060606.3:p.Lys1716Asn
NM_001206846.2:c.4066-7939A>T	NP_001193775.1:n.4066-7939A>T