Canonical Allele Identifier: CA344001490

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059328A>T (hg19) ; chr1:g.197090198A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090198A>T , CM000663.2:g.197090198A>T	GRCh38
NC_000001.10:g.197059328A>T , CM000663.1:g.197059328A>T	GRCh37
NC_000001.9:g.195325951A>T	NCBI36
NG_015867.1:g.61497T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3114T>A
ENST00000367409.9:c.9827T>A MANE Select	ENSP00000356379.4:p.Leu3276Gln
ENST00000680265.1:c.10049T>A	ENSP00000505384.1:p.Leu3350Gln
ENST00000680710.1:c.9803T>A	ENSP00000506676.1:p.Leu3268Gln
ENST00000294732.11:c.5072T>A	ENSP00000294732.7:p.Leu1691Gln
ENST00000367408.5:c.2822T>A	ENSP00000356378.1:p.Leu941Gln
ENST00000367409.8:c.9827T>A	ENSP00000356379.4:p.Leu3276Gln
ENST00000612785.1:c.3785T>A	ENSP00000479244.1:p.Leu1262Gln
NM_001206846.1:c.5072T>A	NP_001193775.1:p.Leu1691Gln
NM_018136.4:c.9827T>A	NP_060606.3:p.Leu3276Gln
NM_018136.5:c.9827T>A MANE Select	NP_060606.3:p.Leu3276Gln
NM_001206846.2:c.5072T>A	NP_001193775.1:p.Leu1691Gln