Canonical Allele Identifier: CA344001240

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059197A>C (hg19) ; chr1:g.197090067A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090067A>C , CM000663.2:g.197090067A>C	GRCh38
NC_000001.10:g.197059197A>C , CM000663.1:g.197059197A>C	GRCh37
NC_000001.9:g.195325820A>C	NCBI36
NG_015867.1:g.61628T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3134T>G
ENST00000367409.9:c.9847T>G MANE Select	ENSP00000356379.4:p.Ser3283Ala
ENST00000680265.1:c.10069T>G	ENSP00000505384.1:p.Ser3357Ala
ENST00000680710.1:c.9823T>G	ENSP00000506676.1:p.Ser3275Ala
ENST00000294732.11:c.5092T>G	ENSP00000294732.7:p.Ser1698Ala
ENST00000367408.5:c.2842T>G	ENSP00000356378.1:p.Ser948Ala
ENST00000367409.8:c.9847T>G	ENSP00000356379.4:p.Ser3283Ala
ENST00000612785.1:c.3805T>G	ENSP00000479244.1:p.Ser1269Ala
NM_001206846.1:c.5092T>G	NP_001193775.1:p.Ser1698Ala
NM_018136.4:c.9847T>G	NP_060606.3:p.Ser3283Ala
NM_018136.5:c.9847T>G MANE Select	NP_060606.3:p.Ser3283Ala
NM_001206846.2:c.5092T>G	NP_001193775.1:p.Ser1698Ala