Canonical Allele Identifier: CA344002526

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060031A>C (hg19) ; chr1:g.197090901A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090901A>C , CM000663.2:g.197090901A>C	GRCh38
NC_000001.10:g.197060031A>C , CM000663.1:g.197060031A>C	GRCh37
NC_000001.9:g.195326654A>C	NCBI36
NG_015867.1:g.60794T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2872T>G
ENST00000367409.9:c.9585T>G MANE Select	ENSP00000356379.4:p.Phe3195Leu
ENST00000680265.1:c.9807T>G	ENSP00000505384.1:p.Phe3269Leu
ENST00000680710.1:c.9561T>G	ENSP00000506676.1:p.Phe3187Leu
ENST00000294732.11:c.4830T>G	ENSP00000294732.7:p.Phe1610Leu
ENST00000367408.5:c.2580T>G	ENSP00000356378.1:p.Phe860Leu
ENST00000367409.8:c.9585T>G	ENSP00000356379.4:p.Phe3195Leu
ENST00000612785.1:c.3543T>G	ENSP00000479244.1:p.Phe1181Leu
NM_001206846.1:c.4830T>G	NP_001193775.1:p.Phe1610Leu
NM_018136.4:c.9585T>G	NP_060606.3:p.Phe3195Leu
NM_018136.5:c.9585T>G MANE Select	NP_060606.3:p.Phe3195Leu
NM_001206846.2:c.4830T>G	NP_001193775.1:p.Phe1610Leu