Canonical Allele Identifier: CA344003304

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060117T>G (hg19) ; chr1:g.197090987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090987T>G , CM000663.2:g.197090987T>G	GRCh38
NC_000001.10:g.197060117T>G , CM000663.1:g.197060117T>G	GRCh37
NC_000001.9:g.195326740T>G	NCBI36
NG_015867.1:g.60708A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2786A>C
ENST00000367409.9:c.9499A>C MANE Select	ENSP00000356379.4:p.Ile3167Leu
ENST00000680265.1:c.9721A>C	ENSP00000505384.1:p.Ile3241Leu
ENST00000680710.1:c.9475A>C	ENSP00000506676.1:p.Ile3159Leu
ENST00000294732.11:c.4744A>C	ENSP00000294732.7:p.Ile1582Leu
ENST00000367408.5:c.2494A>C	ENSP00000356378.1:p.Ile832Leu
ENST00000367409.8:c.9499A>C	ENSP00000356379.4:p.Ile3167Leu
ENST00000612785.1:c.3457A>C	ENSP00000479244.1:p.Ile1153Leu
NM_001206846.1:c.4744A>C	NP_001193775.1:p.Ile1582Leu
NM_018136.4:c.9499A>C	NP_060606.3:p.Ile3167Leu
NM_018136.5:c.9499A>C MANE Select	NP_060606.3:p.Ile3167Leu
NM_001206846.2:c.4744A>C	NP_001193775.1:p.Ile1582Leu