Canonical Allele Identifier: CA343997255

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057393C>A (hg19) ; chr1:g.197088263C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088263C>A , CM000663.2:g.197088263C>A	GRCh38
NC_000001.10:g.197057393C>A , CM000663.1:g.197057393C>A	GRCh37
NC_000001.9:g.195324016C>A	NCBI36
NG_015867.1:g.63432G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3441G>T
ENST00000367409.9:c.10154G>T MANE Select	ENSP00000356379.4:p.Arg3385Ile
ENST00000680265.1:c.10376G>T	ENSP00000505384.1:p.Arg3459Ile
ENST00000680710.1:c.10130G>T	ENSP00000506676.1:p.Arg3377Ile
ENST00000294732.11:c.5399G>T	ENSP00000294732.7:p.Arg1800Ile
ENST00000367408.5:c.3149G>T	ENSP00000356378.1:p.Arg1050Ile
ENST00000367409.8:c.10154G>T	ENSP00000356379.4:p.Arg3385Ile
ENST00000612785.1:c.4112G>T	ENSP00000479244.1:p.Arg1371Ile
NM_001206846.1:c.5399G>T	NP_001193775.1:p.Arg1800Ile
NM_018136.4:c.10154G>T	NP_060606.3:p.Arg3385Ile
NM_018136.5:c.10154G>T MANE Select	NP_060606.3:p.Arg3385Ile
NM_001206846.2:c.5399G>T	NP_001193775.1:p.Arg1800Ile