Canonical Allele Identifier: CA35863500

Gene: ASPM

Linked Data

• dbSNP Id: rs956893110
• MyVariant Identifiers: chr1:g.197062318T>A (hg19) ; chr1:g.197093188T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093188T>A , CM000663.2:g.197093188T>A	GRCh38
NC_000001.10:g.197062318T>A , CM000663.1:g.197062318T>A	GRCh37
NC_000001.9:g.195328941T>A	NCBI36
NG_015867.1:g.58507A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2445A>T
ENST00000367409.9:c.9158A>T MANE Select	ENSP00000356379.4:p.Lys3053Ile
ENST00000680265.1:c.9380A>T	ENSP00000505384.1:p.Lys3127Ile
ENST00000680710.1:c.9158A>T	ENSP00000506676.1:p.Lys3053Ile
ENST00000294732.11:c.4403A>T	ENSP00000294732.7:p.Lys1468Ile
ENST00000367408.5:c.2153A>T	ENSP00000356378.1:p.Lys718Ile
ENST00000367409.8:c.9158A>T	ENSP00000356379.4:p.Lys3053Ile
ENST00000612785.1:c.3116A>T	ENSP00000479244.1:p.Lys1039Ile
NM_001206846.1:c.4403A>T	NP_001193775.1:p.Lys1468Ile
NM_018136.4:c.9158A>T	NP_060606.3:p.Lys3053Ile
NM_018136.5:c.9158A>T MANE Select	NP_060606.3:p.Lys3053Ile
NM_001206846.2:c.4403A>T	NP_001193775.1:p.Lys1468Ile