Canonical Allele Identifier: CA35871395

Gene: ASPM

Linked Data

• ClinVar Variation Id: 592962
• ClinVar RCV Id: RCV000727867
• dbSNP Id: rs375913831
• gnomAD v3: 1-197102913-A-G
• gnomAD v4: 1-197102913-A-G
• MyVariant Identifiers: chr1:g.197072043A>G (hg19) ; chr1:g.197102913A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102913A>G , CM000663.2:g.197102913A>G	GRCh38
NC_000001.10:g.197072043A>G , CM000663.1:g.197072043A>G	GRCh37
NC_000001.9:g.195338666A>G	NCBI36
NG_015867.1:g.48782T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6749T>C
ENST00000367409.9:c.6338T>C MANE Select	ENSP00000356379.4:p.Ile2113Thr
ENST00000680265.1:c.6338T>C	ENSP00000505384.1:p.Ile2113Thr
ENST00000680710.1:c.6338T>C	ENSP00000506676.1:p.Ile2113Thr
ENST00000294732.11:c.4066-6749T>C	ENSP00000294732.7:n.4066-6749T>C
ENST00000367408.5:c.1816-6749T>C	ENSP00000356378.1:n.1816-6749T>C
ENST00000367409.8:c.6338T>C	ENSP00000356379.4:p.Ile2113Thr
ENST00000612785.1:c.562-266T>C	ENSP00000479244.1:n.562-266T>C
NM_001206846.1:c.4066-6749T>C	NP_001193775.1:n.4066-6749T>C
NM_018136.4:c.6338T>C	NP_060606.3:p.Ile2113Thr
NM_018136.5:c.6338T>C MANE Select	NP_060606.3:p.Ile2113Thr
NM_001206846.2:c.4066-6749T>C	NP_001193775.1:n.4066-6749T>C