Canonical Allele Identifier: CA343998513

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057510A>T (hg19) ; chr1:g.197088380A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088380A>T , CM000663.2:g.197088380A>T	GRCh38
NC_000001.10:g.197057510A>T , CM000663.1:g.197057510A>T	GRCh37
NC_000001.9:g.195324133A>T	NCBI36
NG_015867.1:g.63315T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3324T>A
ENST00000367409.9:c.10037T>A MANE Select	ENSP00000356379.4:p.Leu3346Gln
ENST00000680265.1:c.10259T>A	ENSP00000505384.1:p.Leu3420Gln
ENST00000680710.1:c.10013T>A	ENSP00000506676.1:p.Leu3338Gln
ENST00000294732.11:c.5282T>A	ENSP00000294732.7:p.Leu1761Gln
ENST00000367408.5:c.3032T>A	ENSP00000356378.1:p.Leu1011Gln
ENST00000367409.8:c.10037T>A	ENSP00000356379.4:p.Leu3346Gln
ENST00000612785.1:c.3995T>A	ENSP00000479244.1:p.Leu1332Gln
NM_001206846.1:c.5282T>A	NP_001193775.1:p.Leu1761Gln
NM_018136.4:c.10037T>A	NP_060606.3:p.Leu3346Gln
NM_018136.5:c.10037T>A MANE Select	NP_060606.3:p.Leu3346Gln
NM_001206846.2:c.5282T>A	NP_001193775.1:p.Leu1761Gln