Canonical Allele Identifier: CA344039388
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197122212T>A , CM000663.2:g.197122212T>A GRCh38
NC_000001.10:g.197091342T>A , CM000663.1:g.197091342T>A GRCh37
NC_000001.9:g.195357965T>A NCBI36
NG_015867.1:g.29483A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.1730A>T
ENST00000367409.9:c.3688A>T MANE Select ENSP00000356379.4:p.Ile1230Leu
ENST00000680112.1:n.1744A>T
ENST00000680265.1:c.3688A>T ENSP00000505384.1:p.Ile1230Leu
ENST00000680710.1:c.3688A>T ENSP00000506676.1:p.Ile1230Leu
ENST00000681879.1:c.3688A>T ENSP00000505363.1:p.Ile1230Leu
ENST00000294732.11:c.3688A>T ENSP00000294732.7:p.Ile1230Leu
ENST00000367408.5:c.1438A>T ENSP00000356378.1:p.Ile480Leu
ENST00000367409.8:c.3688A>T ENSP00000356379.4:p.Ile1230Leu
ENST00000612785.1:c.562-19565A>T ENSP00000479244.1:n.562-19565A>T
NM_001206846.1:c.3688A>T NP_001193775.1:p.Ile1230Leu
NM_018136.4:c.3688A>T NP_060606.3:p.Ile1230Leu
NM_018136.5:c.3688A>T MANE Select NP_060606.3:p.Ile1230Leu
NM_001206846.2:c.3688A>T NP_001193775.1:p.Ile1230Leu