Canonical Allele Identifier: CA1309294

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1506866
• ClinVar RCV Id: RCV002038214
• dbSNP Id: rs747336758
• ExAC: 1:197070323 T / G
• gnomAD v2: 1-197070323-T-G
• gnomAD v3: 1-197101193-T-G
• gnomAD v4: 1-197101193-T-G
• MyVariant Identifiers: chr1:g.197070323T>G (hg19) ; chr1:g.197101193T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101193T>G , CM000663.2:g.197101193T>G	GRCh38
NC_000001.10:g.197070323T>G , CM000663.1:g.197070323T>G	GRCh37
NC_000001.9:g.195336946T>G	NCBI36
NG_015867.1:g.50502A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5029A>C
ENST00000367409.9:c.8058A>C MANE Select	ENSP00000356379.4:p.Gln2686His
ENST00000680265.1:c.8058A>C	ENSP00000505384.1:p.Gln2686His
ENST00000680710.1:c.8058A>C	ENSP00000506676.1:p.Gln2686His
ENST00000294732.11:c.4066-5029A>C	ENSP00000294732.7:n.4066-5029A>C
ENST00000367408.5:c.1816-5029A>C	ENSP00000356378.1:n.1816-5029A>C
ENST00000367409.8:c.8058A>C	ENSP00000356379.4:p.Gln2686His
ENST00000612785.1:c.2016A>C	ENSP00000479244.1:p.Gln672His
NM_001206846.1:c.4066-5029A>C	NP_001193775.1:n.4066-5029A>C
NM_018136.4:c.8058A>C	NP_060606.3:p.Gln2686His
NM_018136.5:c.8058A>C MANE Select	NP_060606.3:p.Gln2686His
NM_001206846.2:c.4066-5029A>C	NP_001193775.1:n.4066-5029A>C