Canonical Allele Identifier: CA344003022

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060091T>A (hg19) ; chr1:g.197090961T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090961T>A , CM000663.2:g.197090961T>A	GRCh38
NC_000001.10:g.197060091T>A , CM000663.1:g.197060091T>A	GRCh37
NC_000001.9:g.195326714T>A	NCBI36
NG_015867.1:g.60734A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2812A>T
ENST00000367409.9:c.9525A>T MANE Select	ENSP00000356379.4:p.Gln3175His
ENST00000680265.1:c.9747A>T	ENSP00000505384.1:p.Gln3249His
ENST00000680710.1:c.9501A>T	ENSP00000506676.1:p.Gln3167His
ENST00000294732.11:c.4770A>T	ENSP00000294732.7:p.Gln1590His
ENST00000367408.5:c.2520A>T	ENSP00000356378.1:p.Gln840His
ENST00000367409.8:c.9525A>T	ENSP00000356379.4:p.Gln3175His
ENST00000612785.1:c.3483A>T	ENSP00000479244.1:p.Gln1161His
NM_001206846.1:c.4770A>T	NP_001193775.1:p.Gln1590His
NM_018136.4:c.9525A>T	NP_060606.3:p.Gln3175His
NM_018136.5:c.9525A>T MANE Select	NP_060606.3:p.Gln3175His
NM_001206846.2:c.4770A>T	NP_001193775.1:p.Gln1590His