Canonical Allele Identifier: CA343998755

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057552G>A (hg19) ; chr1:g.197088422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088422G>A , CM000663.2:g.197088422G>A	GRCh38
NC_000001.10:g.197057552G>A , CM000663.1:g.197057552G>A	GRCh37
NC_000001.9:g.195324175G>A	NCBI36
NG_015867.1:g.63273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3282C>T
ENST00000367409.9:c.9995C>T MANE Select	ENSP00000356379.4:p.Thr3332Ile
ENST00000680265.1:c.10217C>T	ENSP00000505384.1:p.Thr3406Ile
ENST00000680710.1:c.9971C>T	ENSP00000506676.1:p.Thr3324Ile
ENST00000294732.11:c.5240C>T	ENSP00000294732.7:p.Thr1747Ile
ENST00000367408.5:c.2990C>T	ENSP00000356378.1:p.Thr997Ile
ENST00000367409.8:c.9995C>T	ENSP00000356379.4:p.Thr3332Ile
ENST00000612785.1:c.3953C>T	ENSP00000479244.1:p.Thr1318Ile
NM_001206846.1:c.5240C>T	NP_001193775.1:p.Thr1747Ile
NM_018136.4:c.9995C>T	NP_060606.3:p.Thr3332Ile
NM_018136.5:c.9995C>T MANE Select	NP_060606.3:p.Thr3332Ile
NM_001206846.2:c.5240C>T	NP_001193775.1:p.Thr1747Ile