Canonical Allele Identifier: CA1310221
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 2193108
ClinVar RCV Id: RCV002623875
dbSNP Id: rs765821387

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197124273G>T , CM000663.2:g.197124273G>T GRCh38
NC_000001.10:g.197093403G>T , CM000663.1:g.197093403G>T GRCh37
NC_000001.9:g.195360026G>T NCBI36
NG_015867.1:g.27422C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.1269C>A
ENST00000367409.9:c.3227C>A MANE Select ENSP00000356379.4:p.Thr1076Lys
ENST00000680112.1:n.1283C>A
ENST00000680265.1:c.3227C>A ENSP00000505384.1:p.Thr1076Lys
ENST00000680710.1:c.3227C>A ENSP00000506676.1:p.Thr1076Lys
ENST00000681879.1:c.3227C>A ENSP00000505363.1:p.Thr1076Lys
ENST00000294732.11:c.3227C>A ENSP00000294732.7:p.Thr1076Lys
ENST00000367408.5:c.977C>A ENSP00000356378.1:p.Thr326Lys
ENST00000367409.8:c.3227C>A ENSP00000356379.4:p.Thr1076Lys
ENST00000612785.1:c.561+19418C>A ENSP00000479244.1:n.561+19418C>A
NM_001206846.1:c.3227C>A NP_001193775.1:p.Thr1076Lys
NM_018136.4:c.3227C>A NP_060606.3:p.Thr1076Lys
NM_018136.5:c.3227C>A MANE Select NP_060606.3:p.Thr1076Lys
NM_001206846.2:c.3227C>A NP_001193775.1:p.Thr1076Lys