Canonical Allele Identifier: CA343998820

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057558T>C (hg19) ; chr1:g.197088428T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088428T>C , CM000663.2:g.197088428T>C	GRCh38
NC_000001.10:g.197057558T>C , CM000663.1:g.197057558T>C	GRCh37
NC_000001.9:g.195324181T>C	NCBI36
NG_015867.1:g.63267A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3276A>G
ENST00000367409.9:c.9989A>G MANE Select	ENSP00000356379.4:p.Glu3330Gly
ENST00000680265.1:c.10211A>G	ENSP00000505384.1:p.Glu3404Gly
ENST00000680710.1:c.9965A>G	ENSP00000506676.1:p.Glu3322Gly
ENST00000294732.11:c.5234A>G	ENSP00000294732.7:p.Glu1745Gly
ENST00000367408.5:c.2984A>G	ENSP00000356378.1:p.Glu995Gly
ENST00000367409.8:c.9989A>G	ENSP00000356379.4:p.Glu3330Gly
ENST00000612785.1:c.3947A>G	ENSP00000479244.1:p.Glu1316Gly
NM_001206846.1:c.5234A>G	NP_001193775.1:p.Glu1745Gly
NM_018136.4:c.9989A>G	NP_060606.3:p.Glu3330Gly
NM_018136.5:c.9989A>G MANE Select	NP_060606.3:p.Glu3330Gly
NM_001206846.2:c.5234A>G	NP_001193775.1:p.Glu1745Gly