Canonical Allele Identifier: CA233487
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21628
dbSNP Id: rs193251130

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090947T>G , CM000663.2:g.197090947T>G GRCh38
NC_000001.10:g.197060077T>G , CM000663.1:g.197060077T>G GRCh37
NC_000001.9:g.195326700T>G NCBI36
NG_015867.1:g.60748A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2826A>C
ENST00000367409.9:c.9539A>C MANE Select ENSP00000356379.4:p.Gln3180Pro
ENST00000680265.1:c.9761A>C ENSP00000505384.1:p.Gln3254Pro
ENST00000680710.1:n.9515A>C ENSP00000506676.1:p.Gln3172Pro
ENST00000294732.11:c.4784A>C ENSP00000294732.7:p.Gln1595Pro
ENST00000367408.5:c.2534A>C ENSP00000356378.1:p.Gln845Pro
ENST00000367409.8:c.9539A>C ENSP00000356379.4:p.Gln3180Pro
ENST00000612785.1:c.3497A>C ENSP00000479244.1:p.Gln1166Pro
NM_001206846.1:c.4784A>C NP_001193775.1:p.Gln1595Pro
NM_018136.4:c.9539A>C NP_060606.3:p.Gln3180Pro
NM_018136.5:c.9539A>C MANE Select NP_060606.3:p.Gln3180Pro
NM_001206846.2:c.4784A>C NP_001193775.1:p.Gln1595Pro