Canonical Allele Identifier: CA344003725

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1679840
• ClinVar RCV Id: RCV002227856
• dbSNP Id: rs2125088498
• MyVariant Identifiers: chr1:g.197060166C>T (hg19) ; chr1:g.197091036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091036C>T , CM000663.2:g.197091036C>T	GRCh38
NC_000001.10:g.197060166C>T , CM000663.1:g.197060166C>T	GRCh37
NC_000001.9:g.195326789C>T	NCBI36
NG_015867.1:g.60659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2737G>A
ENST00000367409.9:c.9450G>A MANE Select	ENSP00000356379.4:p.Trp3150Ter
ENST00000680265.1:c.9672G>A	ENSP00000505384.1:p.Trp3224Ter
ENST00000680710.1:c.9426G>A	ENSP00000506676.1:p.Trp3142Ter
ENST00000294732.11:c.4695G>A	ENSP00000294732.7:p.Trp1565Ter
ENST00000367408.5:c.2445G>A	ENSP00000356378.1:p.Trp815Ter
ENST00000367409.8:c.9450G>A	ENSP00000356379.4:p.Trp3150Ter
ENST00000612785.1:c.3408G>A	ENSP00000479244.1:p.Trp1136Ter
NM_001206846.1:c.4695G>A	NP_001193775.1:p.Trp1565Ter
NM_018136.4:c.9450G>A	NP_060606.3:p.Trp3150Ter
NM_018136.5:c.9450G>A MANE Select	NP_060606.3:p.Trp3150Ter
NM_001206846.2:c.4695G>A	NP_001193775.1:p.Trp1565Ter