Canonical Allele Identifier: CA344006869

Gene: ASPM

Linked Data

• dbSNP Id: rs199422186
• MyVariant Identifiers: chr1:g.197062238T>C (hg19) ; chr1:g.197093108T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093108T>C , CM000663.2:g.197093108T>C	GRCh38
NC_000001.10:g.197062238T>C , CM000663.1:g.197062238T>C	GRCh37
NC_000001.9:g.195328861T>C	NCBI36
NG_015867.1:g.58587A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2525A>G
ENST00000367409.9:c.9238A>G MANE Select	ENSP00000356379.4:p.Lys3080Glu
ENST00000680265.1:c.9460A>G	ENSP00000505384.1:p.Lys3154Glu
ENST00000680710.1:c.9238A>G	ENSP00000506676.1:p.Lys3080Glu
ENST00000294732.11:c.4483A>G	ENSP00000294732.7:p.Lys1495Glu
ENST00000367408.5:c.2233A>G	ENSP00000356378.1:p.Lys745Glu
ENST00000367409.8:c.9238A>G	ENSP00000356379.4:p.Lys3080Glu
ENST00000612785.1:c.3196A>G	ENSP00000479244.1:p.Lys1066Glu
NM_001206846.1:c.4483A>G	NP_001193775.1:p.Lys1495Glu
NM_018136.4:c.9238A>G	NP_060606.3:p.Lys3080Glu
NM_018136.5:c.9238A>G MANE Select	NP_060606.3:p.Lys3080Glu
NM_001206846.2:c.4483A>G	NP_001193775.1:p.Lys1495Glu