Canonical Allele Identifier: CA1309206

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1897883
• ClinVar RCV Id: RCV002579695 ; RCV002579694 ; RCV003455533
• dbSNP Id: rs199575079
• ExAC: 1:197069842 G / C
• gnomAD v2: 1-197069842-G-C
• gnomAD v3: 1-197100712-G-C
• gnomAD v4: 1-197100712-G-C
• MyVariant Identifiers: chr1:g.197069842G>C (hg19) ; chr1:g.197100712G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100712G>C , CM000663.2:g.197100712G>C	GRCh38
NC_000001.10:g.197069842G>C , CM000663.1:g.197069842G>C	GRCh37
NC_000001.9:g.195336465G>C	NCBI36
NG_015867.1:g.50983C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4548C>G
ENST00000367409.9:c.8539C>G MANE Select	ENSP00000356379.4:p.Leu2847Val
ENST00000680265.1:c.8539C>G	ENSP00000505384.1:p.Leu2847Val
ENST00000680710.1:c.8539C>G	ENSP00000506676.1:p.Leu2847Val
ENST00000294732.11:c.4066-4548C>G	ENSP00000294732.7:n.4066-4548C>G
ENST00000367408.5:c.1816-4548C>G	ENSP00000356378.1:n.1816-4548C>G
ENST00000367409.8:c.8539C>G	ENSP00000356379.4:p.Leu2847Val
ENST00000612785.1:c.2497C>G	ENSP00000479244.1:p.Leu833Val
NM_001206846.1:c.4066-4548C>G	NP_001193775.1:n.4066-4548C>G
NM_018136.4:c.8539C>G	NP_060606.3:p.Leu2847Val
NM_018136.5:c.8539C>G MANE Select	NP_060606.3:p.Leu2847Val
NM_001206846.2:c.4066-4548C>G	NP_001193775.1:n.4066-4548C>G