Canonical Allele Identifier: CA344039863

Gene: ASPM

Linked Data

• ClinVar Variation Id: 875907
• ClinVar RCV Id: RCV001100192
• dbSNP Id: rs1320488101
• gnomAD v3: 1-197122278-C-T
• gnomAD v4: 1-197122278-C-T
• MyVariant Identifiers: chr1:g.197091408C>T (hg19) ; chr1:g.197122278C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122278C>T , CM000663.2:g.197122278C>T	GRCh38
NC_000001.10:g.197091408C>T , CM000663.1:g.197091408C>T	GRCh37
NC_000001.9:g.195358031C>T	NCBI36
NG_015867.1:g.29417G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1664G>A
ENST00000367409.9:c.3622G>A MANE Select	ENSP00000356379.4:p.Glu1208Lys
ENST00000680112.1:n.1678G>A
ENST00000680265.1:c.3622G>A	ENSP00000505384.1:p.Glu1208Lys
ENST00000680710.1:c.3622G>A	ENSP00000506676.1:p.Glu1208Lys
ENST00000681879.1:c.3622G>A	ENSP00000505363.1:p.Glu1208Lys
ENST00000294732.11:c.3622G>A	ENSP00000294732.7:p.Glu1208Lys
ENST00000367408.5:c.1372G>A	ENSP00000356378.1:p.Glu458Lys
ENST00000367409.8:c.3622G>A	ENSP00000356379.4:p.Glu1208Lys
ENST00000612785.1:c.562-19631G>A	ENSP00000479244.1:n.562-19631G>A
NM_001206846.1:c.3622G>A	NP_001193775.1:p.Glu1208Lys
NM_018136.4:c.3622G>A	NP_060606.3:p.Glu1208Lys
NM_018136.5:c.3622G>A MANE Select	NP_060606.3:p.Glu1208Lys
NM_001206846.2:c.3622G>A	NP_001193775.1:p.Glu1208Lys