Canonical Allele Identifier: CA1309545

Gene: ASPM

Linked Data

• ClinVar Variation Id: 391778
• ClinVar RCV Id: RCV000430195
• dbSNP Id: rs745714332
• ExAC: 1:197071695 C / G
• gnomAD v2: 1-197071695-C-G
• gnomAD v3: 1-197102565-C-G
• gnomAD v4: 1-197102565-C-G
• COSMIC: COSM4844105
• MyVariant Identifiers: chr1:g.197071695C>G (hg19) ; chr1:g.197102565C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102565C>G , CM000663.2:g.197102565C>G	GRCh38
NC_000001.10:g.197071695C>G , CM000663.1:g.197071695C>G	GRCh37
NC_000001.9:g.195338318C>G	NCBI36
NG_015867.1:g.49130G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6401G>C
ENST00000367409.9:c.6686G>C MANE Select	ENSP00000356379.4:p.Arg2229Thr
ENST00000680265.1:c.6686G>C	ENSP00000505384.1:p.Arg2229Thr
ENST00000680710.1:c.6686G>C	ENSP00000506676.1:p.Arg2229Thr
ENST00000294732.11:c.4066-6401G>C	ENSP00000294732.7:n.4066-6401G>C
ENST00000367408.5:c.1816-6401G>C	ENSP00000356378.1:n.1816-6401G>C
ENST00000367409.8:c.6686G>C	ENSP00000356379.4:p.Arg2229Thr
ENST00000612785.1:c.644G>C	ENSP00000479244.1:p.Arg215Thr
NM_001206846.1:c.4066-6401G>C	NP_001193775.1:n.4066-6401G>C
NM_018136.4:c.6686G>C	NP_060606.3:p.Arg2229Thr
NM_018136.5:c.6686G>C MANE Select	NP_060606.3:p.Arg2229Thr
NM_001206846.2:c.4066-6401G>C	NP_001193775.1:n.4066-6401G>C