Canonical Allele Identifier: CA344001158

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059186A>T (hg19) ; chr1:g.197090056A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090056A>T , CM000663.2:g.197090056A>T	GRCh38
NC_000001.10:g.197059186A>T , CM000663.1:g.197059186A>T	GRCh37
NC_000001.9:g.195325809A>T	NCBI36
NG_015867.1:g.61639T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3145T>A
ENST00000367409.9:c.9858T>A MANE Select	ENSP00000356379.4:p.Cys3286Ter
ENST00000680265.1:c.10080T>A	ENSP00000505384.1:p.Cys3360Ter
ENST00000680710.1:c.9834T>A	ENSP00000506676.1:p.Cys3278Ter
ENST00000294732.11:c.5103T>A	ENSP00000294732.7:p.Cys1701Ter
ENST00000367408.5:c.2853T>A	ENSP00000356378.1:p.Cys951Ter
ENST00000367409.8:c.9858T>A	ENSP00000356379.4:p.Cys3286Ter
ENST00000612785.1:c.3816T>A	ENSP00000479244.1:p.Cys1272Ter
NM_001206846.1:c.5103T>A	NP_001193775.1:p.Cys1701Ter
NM_018136.4:c.9858T>A	NP_060606.3:p.Cys3286Ter
NM_018136.5:c.9858T>A MANE Select	NP_060606.3:p.Cys3286Ter
NM_001206846.2:c.5103T>A	NP_001193775.1:p.Cys1701Ter