Canonical Allele Identifier: CA422672173
Gene: ASPM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197057437T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088307T>A , CM000663.2:g.197088307T>A GRCh38
NC_000001.10:g.197057437T>A , CM000663.1:g.197057437T>A GRCh37
NC_000001.9:g.195324060T>A NCBI36
NG_015867.1:g.63388A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3397A>T
ENST00000367409.9:c.10110A>T MANE Select ENSP00000356379.4:p.Thr3370=
ENST00000680265.1:c.10332A>T ENSP00000505384.1:p.Thr3444=
ENST00000680710.1:c.10086A>T ENSP00000506676.1:p.Thr3362=
ENST00000294732.11:c.5355A>T ENSP00000294732.7:p.Thr1785=
ENST00000367408.5:c.3105A>T ENSP00000356378.1:p.Thr1035=
ENST00000367409.8:c.10110A>T ENSP00000356379.4:p.Thr3370=
ENST00000612785.1:c.4068A>T ENSP00000479244.1:p.Thr1356=
NM_001206846.1:c.5355A>T NP_001193775.1:p.Thr1785=
NM_018136.4:c.10110A>T NP_060606.3:p.Thr3370=
NM_018136.5:c.10110A>T MANE Select NP_060606.3:p.Thr3370=
NM_001206846.2:c.5355A>T NP_001193775.1:p.Thr1785=