Canonical Allele Identifier: CA1309030

Gene: ASPM

Linked Data

• ClinVar Variation Id: 294603
• ClinVar RCV Id: RCV000365736 ; RCV000502343 ; RCV002522090
• dbSNP Id: rs142024644
• ExAC: 1:197062325 G / A
• gnomAD v2: 1-197062325-G-A
• gnomAD v3: 1-197093195-G-A
• gnomAD v4: 1-197093195-G-A
• COSMIC: COSM901655
• MyVariant Identifiers: chr1:g.197062325G>A (hg19) ; chr1:g.197093195G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093195G>A , CM000663.2:g.197093195G>A	GRCh38
NC_000001.10:g.197062325G>A , CM000663.1:g.197062325G>A	GRCh37
NC_000001.9:g.195328948G>A	NCBI36
NG_015867.1:g.58500C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2438C>T
ENST00000367409.9:c.9151C>T MANE Select	ENSP00000356379.4:p.Arg3051Trp
ENST00000680265.1:c.9373C>T	ENSP00000505384.1:p.Arg3125Trp
ENST00000680710.1:c.9151C>T	ENSP00000506676.1:p.Arg3051Trp
ENST00000294732.11:c.4396C>T	ENSP00000294732.7:p.Arg1466Trp
ENST00000367408.5:c.2146C>T	ENSP00000356378.1:p.Arg716Trp
ENST00000367409.8:c.9151C>T	ENSP00000356379.4:p.Arg3051Trp
ENST00000612785.1:c.3109C>T	ENSP00000479244.1:p.Arg1037Trp
NM_001206846.1:c.4396C>T	NP_001193775.1:p.Arg1466Trp
NM_018136.4:c.9151C>T	NP_060606.3:p.Arg3051Trp
NM_018136.5:c.9151C>T MANE Select	NP_060606.3:p.Arg3051Trp
NM_001206846.2:c.4396C>T	NP_001193775.1:p.Arg1466Trp