Canonical Allele Identifier: CA344007238
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs759052633

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197093170A>G , CM000663.2:g.197093170A>G GRCh38
NC_000001.10:g.197062300A>G , CM000663.1:g.197062300A>G GRCh37
NC_000001.9:g.195328923A>G NCBI36
NG_015867.1:g.58525T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2463T>C
ENST00000367409.9:c.9176T>C MANE Select ENSP00000356379.4:p.Ile3059Thr
ENST00000680265.1:c.9398T>C ENSP00000505384.1:p.Ile3133Thr
ENST00000680710.1:c.9176T>C ENSP00000506676.1:p.Ile3059Thr
ENST00000294732.11:c.4421T>C ENSP00000294732.7:p.Ile1474Thr
ENST00000367408.5:c.2171T>C ENSP00000356378.1:p.Ile724Thr
ENST00000367409.8:c.9176T>C ENSP00000356379.4:p.Ile3059Thr
ENST00000612785.1:c.3134T>C ENSP00000479244.1:p.Ile1045Thr
NM_001206846.1:c.4421T>C NP_001193775.1:p.Ile1474Thr
NM_018136.4:c.9176T>C NP_060606.3:p.Ile3059Thr
NM_018136.5:c.9176T>C MANE Select NP_060606.3:p.Ile3059Thr
NM_001206846.2:c.4421T>C NP_001193775.1:p.Ile1474Thr