Canonical Allele Identifier: CA1309914

Gene: ASPM

Linked Data

• ClinVar Variation Id: 585446
• ClinVar RCV Id: RCV000710634 ; RCV000763784 ; RCV004026790
• dbSNP Id: rs751358312
• ExAC: 1:197073861 T / C
• gnomAD v2: 1-197073861-T-C
• gnomAD v3: 1-197104731-T-C
• gnomAD v4: 1-197104731-T-C
• MyVariant Identifiers: chr1:g.197073861T>C (hg19) ; chr1:g.197104731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104731T>C , CM000663.2:g.197104731T>C	GRCh38
NC_000001.10:g.197073861T>C , CM000663.1:g.197073861T>C	GRCh37
NC_000001.9:g.195340484T>C	NCBI36
NG_015867.1:g.46964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8567A>G
ENST00000367409.9:c.4520A>G MANE Select	ENSP00000356379.4:p.Tyr1507Cys
ENST00000680265.1:c.4520A>G	ENSP00000505384.1:p.Tyr1507Cys
ENST00000680710.1:c.4520A>G	ENSP00000506676.1:p.Tyr1507Cys
ENST00000681879.1:c.4568A>G	ENSP00000505363.1:n.4568A>G
ENST00000294732.11:c.4066-8567A>G	ENSP00000294732.7:n.4066-8567A>G
ENST00000367408.5:c.1816-8567A>G	ENSP00000356378.1:n.1816-8567A>G
ENST00000367409.8:c.4520A>G	ENSP00000356379.4:p.Tyr1507Cys
ENST00000612785.1:c.562-2084A>G	ENSP00000479244.1:n.562-2084A>G
NM_001206846.1:c.4066-8567A>G	NP_001193775.1:n.4066-8567A>G
NM_018136.4:c.4520A>G	NP_060606.3:p.Tyr1507Cys
NM_018136.5:c.4520A>G MANE Select	NP_060606.3:p.Tyr1507Cys
NM_001206846.2:c.4066-8567A>G	NP_001193775.1:n.4066-8567A>G