Canonical Allele Identifier: CA422672201

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057482T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088352T>C , CM000663.2:g.197088352T>C	GRCh38
NC_000001.10:g.197057482T>C , CM000663.1:g.197057482T>C	GRCh37
NC_000001.9:g.195324105T>C	NCBI36
NG_015867.1:g.63343A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3352A>G
ENST00000367409.9:c.10065A>G MANE Select	ENSP00000356379.4:p.Glu3355=
ENST00000680265.1:c.10287A>G	ENSP00000505384.1:p.Glu3429=
ENST00000680710.1:c.10041A>G	ENSP00000506676.1:p.Glu3347=
ENST00000294732.11:c.5310A>G	ENSP00000294732.7:p.Glu1770=
ENST00000367408.5:c.3060A>G	ENSP00000356378.1:p.Glu1020=
ENST00000367409.8:c.10065A>G	ENSP00000356379.4:p.Glu3355=
ENST00000612785.1:c.4023A>G	ENSP00000479244.1:p.Glu1341=
NM_001206846.1:c.5310A>G	NP_001193775.1:p.Glu1770=
NM_018136.4:c.10065A>G	NP_060606.3:p.Glu3355=
NM_018136.5:c.10065A>G MANE Select	NP_060606.3:p.Glu3355=
NM_001206846.2:c.5310A>G	NP_001193775.1:p.Glu1770=