Canonical Allele Identifier: CA344006902

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197062246A>C (hg19) ; chr1:g.197093116A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093116A>C , CM000663.2:g.197093116A>C	GRCh38
NC_000001.10:g.197062246A>C , CM000663.1:g.197062246A>C	GRCh37
NC_000001.9:g.195328869A>C	NCBI36
NG_015867.1:g.58579T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2517T>G
ENST00000367409.9:c.9230T>G MANE Select	ENSP00000356379.4:p.Ile3077Ser
ENST00000680265.1:c.9452T>G	ENSP00000505384.1:p.Ile3151Ser
ENST00000680710.1:c.9230T>G	ENSP00000506676.1:p.Ile3077Ser
ENST00000294732.11:c.4475T>G	ENSP00000294732.7:p.Ile1492Ser
ENST00000367408.5:c.2225T>G	ENSP00000356378.1:p.Ile742Ser
ENST00000367409.8:c.9230T>G	ENSP00000356379.4:p.Ile3077Ser
ENST00000612785.1:c.3188T>G	ENSP00000479244.1:p.Ile1063Ser
NM_001206846.1:c.4475T>G	NP_001193775.1:p.Ile1492Ser
NM_018136.4:c.9230T>G	NP_060606.3:p.Ile3077Ser
NM_018136.5:c.9230T>G MANE Select	NP_060606.3:p.Ile3077Ser
NM_001206846.2:c.4475T>G	NP_001193775.1:p.Ile1492Ser