Canonical Allele Identifier: CA422672408
Gene: ASPM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197060004G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090874G>A , CM000663.2:g.197090874G>A GRCh38
NC_000001.10:g.197060004G>A , CM000663.1:g.197060004G>A GRCh37
NC_000001.9:g.195326627G>A NCBI36
NG_015867.1:g.60821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2899C>T
ENST00000367409.9:c.9612C>T MANE Select ENSP00000356379.4:p.Phe3204=
ENST00000680265.1:c.9834C>T ENSP00000505384.1:p.Phe3278=
ENST00000680710.1:c.9588C>T ENSP00000506676.1:p.Phe3196=
ENST00000294732.11:c.4857C>T ENSP00000294732.7:p.Phe1619=
ENST00000367408.5:c.2607C>T ENSP00000356378.1:p.Phe869=
ENST00000367409.8:c.9612C>T ENSP00000356379.4:p.Phe3204=
ENST00000612785.1:c.3570C>T ENSP00000479244.1:p.Phe1190=
NM_001206846.1:c.4857C>T NP_001193775.1:p.Phe1619=
NM_018136.4:c.9612C>T NP_060606.3:p.Phe3204=
NM_018136.5:c.9612C>T MANE Select NP_060606.3:p.Phe3204=
NM_001206846.2:c.4857C>T NP_001193775.1:p.Phe1619=