Canonical Allele Identifier: CA422672468
Gene: ASPM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197060106A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090976A>G , CM000663.2:g.197090976A>G GRCh38
NC_000001.10:g.197060106A>G , CM000663.1:g.197060106A>G GRCh37
NC_000001.9:g.195326729A>G NCBI36
NG_015867.1:g.60719T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2797T>C
ENST00000367409.9:c.9510T>C MANE Select ENSP00000356379.4:p.Ile3170=
ENST00000680265.1:c.9732T>C ENSP00000505384.1:p.Ile3244=
ENST00000680710.1:c.9486T>C ENSP00000506676.1:p.Ile3162=
ENST00000294732.11:c.4755T>C ENSP00000294732.7:p.Ile1585=
ENST00000367408.5:c.2505T>C ENSP00000356378.1:p.Ile835=
ENST00000367409.8:c.9510T>C ENSP00000356379.4:p.Ile3170=
ENST00000612785.1:c.3468T>C ENSP00000479244.1:p.Ile1156=
NM_001206846.1:c.4755T>C NP_001193775.1:p.Ile1585=
NM_018136.4:c.9510T>C NP_060606.3:p.Ile3170=
NM_018136.5:c.9510T>C MANE Select NP_060606.3:p.Ile3170=
NM_001206846.2:c.4755T>C NP_001193775.1:p.Ile1585=