Canonical Allele Identifier: CA1309219

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1905438
• ClinVar RCV Id: RCV002580869
• dbSNP Id: rs763175387
• ExAC: 1:197069934 C / A
• gnomAD v2: 1-197069934-C-A
• gnomAD v3: 1-197100804-C-A
• gnomAD v4: 1-197100804-C-A
• MyVariant Identifiers: chr1:g.197069934C>A (hg19) ; chr1:g.197100804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100804C>A , CM000663.2:g.197100804C>A	GRCh38
NC_000001.10:g.197069934C>A , CM000663.1:g.197069934C>A	GRCh37
NC_000001.9:g.195336557C>A	NCBI36
NG_015867.1:g.50891G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4640G>T
ENST00000367409.9:c.8447G>T MANE Select	ENSP00000356379.4:p.Arg2816Met
ENST00000680265.1:c.8447G>T	ENSP00000505384.1:p.Arg2816Met
ENST00000680710.1:c.8447G>T	ENSP00000506676.1:p.Arg2816Met
ENST00000294732.11:c.4066-4640G>T	ENSP00000294732.7:n.4066-4640G>T
ENST00000367408.5:c.1816-4640G>T	ENSP00000356378.1:n.1816-4640G>T
ENST00000367409.8:c.8447G>T	ENSP00000356379.4:p.Arg2816Met
ENST00000612785.1:c.2405G>T	ENSP00000479244.1:p.Arg802Met
NM_001206846.1:c.4066-4640G>T	NP_001193775.1:n.4066-4640G>T
NM_018136.4:c.8447G>T	NP_060606.3:p.Arg2816Met
NM_018136.5:c.8447G>T MANE Select	NP_060606.3:p.Arg2816Met
NM_001206846.2:c.4066-4640G>T	NP_001193775.1:n.4066-4640G>T