Canonical Allele Identifier: CA422672220
Gene: ASPM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197057512T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088382T>G , CM000663.2:g.197088382T>G GRCh38
NC_000001.10:g.197057512T>G , CM000663.1:g.197057512T>G GRCh37
NC_000001.9:g.195324135T>G NCBI36
NG_015867.1:g.63313A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3322A>C
ENST00000367409.9:c.10035A>C MANE Select ENSP00000356379.4:p.Ile3345=
ENST00000680265.1:c.10257A>C ENSP00000505384.1:p.Ile3419=
ENST00000680710.1:c.10011A>C ENSP00000506676.1:p.Ile3337=
ENST00000294732.11:c.5280A>C ENSP00000294732.7:p.Ile1760=
ENST00000367408.5:c.3030A>C ENSP00000356378.1:p.Ile1010=
ENST00000367409.8:c.10035A>C ENSP00000356379.4:p.Ile3345=
ENST00000612785.1:c.3993A>C ENSP00000479244.1:p.Ile1331=
NM_001206846.1:c.5280A>C NP_001193775.1:p.Ile1760=
NM_018136.4:c.10035A>C NP_060606.3:p.Ile3345=
NM_018136.5:c.10035A>C MANE Select NP_060606.3:p.Ile3345=
NM_001206846.2:c.5280A>C NP_001193775.1:p.Ile1760=