Canonical Allele Identifier: CA343998701

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057541C>A (hg19) ; chr1:g.197088411C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088411C>A , CM000663.2:g.197088411C>A	GRCh38
NC_000001.10:g.197057541C>A , CM000663.1:g.197057541C>A	GRCh37
NC_000001.9:g.195324164C>A	NCBI36
NG_015867.1:g.63284G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3293G>T
ENST00000367409.9:c.10006G>T MANE Select	ENSP00000356379.4:p.Val3336Phe
ENST00000680265.1:c.10228G>T	ENSP00000505384.1:p.Val3410Phe
ENST00000680710.1:c.9982G>T	ENSP00000506676.1:p.Val3328Phe
ENST00000294732.11:c.5251G>T	ENSP00000294732.7:p.Val1751Phe
ENST00000367408.5:c.3001G>T	ENSP00000356378.1:p.Val1001Phe
ENST00000367409.8:c.10006G>T	ENSP00000356379.4:p.Val3336Phe
ENST00000612785.1:c.3964G>T	ENSP00000479244.1:p.Val1322Phe
NM_001206846.1:c.5251G>T	NP_001193775.1:p.Val1751Phe
NM_018136.4:c.10006G>T	NP_060606.3:p.Val3336Phe
NM_018136.5:c.10006G>T MANE Select	NP_060606.3:p.Val3336Phe
NM_001206846.2:c.5251G>T	NP_001193775.1:p.Val1751Phe