Canonical Allele Identifier: CA422672496
Gene: ASPM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197060163A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197091033A>G , CM000663.2:g.197091033A>G GRCh38
NC_000001.10:g.197060163A>G , CM000663.1:g.197060163A>G GRCh37
NC_000001.9:g.195326786A>G NCBI36
NG_015867.1:g.60662T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2740T>C
ENST00000367409.9:c.9453T>C MANE Select ENSP00000356379.4:p.Phe3151=
ENST00000680265.1:c.9675T>C ENSP00000505384.1:p.Phe3225=
ENST00000680710.1:c.9429T>C ENSP00000506676.1:p.Phe3143=
ENST00000294732.11:c.4698T>C ENSP00000294732.7:p.Phe1566=
ENST00000367408.5:c.2448T>C ENSP00000356378.1:p.Phe816=
ENST00000367409.8:c.9453T>C ENSP00000356379.4:p.Phe3151=
ENST00000612785.1:c.3411T>C ENSP00000479244.1:p.Phe1137=
NM_001206846.1:c.4698T>C NP_001193775.1:p.Phe1566=
NM_018136.4:c.9453T>C NP_060606.3:p.Phe3151=
NM_018136.5:c.9453T>C MANE Select NP_060606.3:p.Phe3151=
NM_001206846.2:c.4698T>C NP_001193775.1:p.Phe1566=