Canonical Allele Identifier: CA343998525
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs1384008023

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088381G>C , CM000663.2:g.197088381G>C GRCh38
NC_000001.10:g.197057511G>C , CM000663.1:g.197057511G>C GRCh37
NC_000001.9:g.195324134G>C NCBI36
NG_015867.1:g.63314C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3323C>G
ENST00000367409.9:c.10036C>G MANE Select ENSP00000356379.4:p.Leu3346Val
ENST00000680265.1:c.10258C>G ENSP00000505384.1:p.Leu3420Val
ENST00000680710.1:c.10012C>G ENSP00000506676.1:p.Leu3338Val
ENST00000294732.11:c.5281C>G ENSP00000294732.7:p.Leu1761Val
ENST00000367408.5:c.3031C>G ENSP00000356378.1:p.Leu1011Val
ENST00000367409.8:c.10036C>G ENSP00000356379.4:p.Leu3346Val
ENST00000612785.1:c.3994C>G ENSP00000479244.1:p.Leu1332Val
NM_001206846.1:c.5281C>G NP_001193775.1:p.Leu1761Val
NM_018136.4:c.10036C>G NP_060606.3:p.Leu3346Val
NM_018136.5:c.10036C>G MANE Select NP_060606.3:p.Leu3346Val
NM_001206846.2:c.5281C>G NP_001193775.1:p.Leu1761Val