Canonical Allele Identifier: CA1308992

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1990299
• ClinVar RCV Id: RCV002800815
• dbSNP Id: rs376811340
• ExAC: 1:197062164 C / T
• gnomAD v2: 1-197062164-C-T
• gnomAD v3: 1-197093034-C-T
• gnomAD v4: 1-197093034-C-T
• MyVariant Identifiers: chr1:g.197062164C>T (hg19) ; chr1:g.197093034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093034C>T , CM000663.2:g.197093034C>T	GRCh38
NC_000001.10:g.197062164C>T , CM000663.1:g.197062164C>T	GRCh37
NC_000001.9:g.195328787C>T	NCBI36
NG_015867.1:g.58661G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2581+18G>A
ENST00000367409.9:c.9294+18G>A MANE Select	ENSP00000356379.4:n.9294+18G>A
ENST00000680265.1:c.9516+18G>A	ENSP00000505384.1:n.9516+18G>A
ENST00000680710.1:c.9294+18G>A	ENSP00000506676.1:n.9294+18G>A
ENST00000294732.11:c.4539+18G>A	ENSP00000294732.7:n.4539+18G>A
ENST00000367408.5:c.2289+18G>A	ENSP00000356378.1:n.2289+18G>A
ENST00000367409.8:c.9294+18G>A	ENSP00000356379.4:n.9294+18G>A
ENST00000612785.1:c.3252+18G>A	ENSP00000479244.1:n.3252+18G>A
NM_001206846.1:c.4539+18G>A	NP_001193775.1:n.4539+18G>A
NM_018136.4:c.9294+18G>A	NP_060606.3:n.9294+18G>A
NM_018136.5:c.9294+18G>A MANE Select	NP_060606.3:n.9294+18G>A
NM_001206846.2:c.4539+18G>A	NP_001193775.1:n.4539+18G>A