Canonical Allele Identifier: CA35881390

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1216264
• ClinVar RCV Id: RCV001580893
• dbSNP Id: rs115716898
• gnomAD v2: 1-197086846-T-C
• gnomAD v3: 1-197117716-T-C
• gnomAD v4: 1-197117716-T-C
• MyVariant Identifiers: chr1:g.197086846T>C (hg19) ; chr1:g.197117716T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197117716T>C , CM000663.2:g.197117716T>C	GRCh38
NC_000001.10:g.197086846T>C , CM000663.1:g.197086846T>C	GRCh37
NC_000001.9:g.195353469T>C	NCBI36
NG_015867.1:g.33979A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2107+73A>G
ENST00000367409.9:c.4065+73A>G MANE Select	ENSP00000356379.4:n.4065+73A>G
ENST00000680265.1:c.4065+73A>G	ENSP00000505384.1:n.4065+73A>G
ENST00000680710.1:c.4065+73A>G	ENSP00000506676.1:n.4065+73A>G
ENST00000681879.1:c.4113+73A>G	ENSP00000505363.1:n.4113+73A>G
ENST00000294732.11:c.4065+73A>G	ENSP00000294732.7:n.4065+73A>G
ENST00000367408.5:c.1815+73A>G	ENSP00000356378.1:n.1815+73A>G
ENST00000367409.8:c.4065+73A>G	ENSP00000356379.4:n.4065+73A>G
ENST00000612785.1:c.562-15069A>G	ENSP00000479244.1:n.562-15069A>G
NM_001206846.1:c.4065+73A>G	NP_001193775.1:n.4065+73A>G
NM_018136.4:c.4065+73A>G	NP_060606.3:n.4065+73A>G
NM_018136.5:c.4065+73A>G MANE Select	NP_060606.3:n.4065+73A>G
NM_001206846.2:c.4065+73A>G	NP_001193775.1:n.4065+73A>G