Canonical Allele Identifier: CA344001670

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059356A>C (hg19) ; chr1:g.197090226A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090226A>C , CM000663.2:g.197090226A>C	GRCh38
NC_000001.10:g.197059356A>C , CM000663.1:g.197059356A>C	GRCh37
NC_000001.9:g.195325979A>C	NCBI36
NG_015867.1:g.61469T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3086T>G
ENST00000367409.9:c.9799T>G MANE Select	ENSP00000356379.4:p.Ser3267Ala
ENST00000680265.1:c.10021T>G	ENSP00000505384.1:p.Ser3341Ala
ENST00000680710.1:c.9775T>G	ENSP00000506676.1:p.Ser3259Ala
ENST00000294732.11:c.5044T>G	ENSP00000294732.7:p.Ser1682Ala
ENST00000367408.5:c.2794T>G	ENSP00000356378.1:p.Ser932Ala
ENST00000367409.8:c.9799T>G	ENSP00000356379.4:p.Ser3267Ala
ENST00000612785.1:c.3757T>G	ENSP00000479244.1:p.Ser1253Ala
NM_001206846.1:c.5044T>G	NP_001193775.1:p.Ser1682Ala
NM_018136.4:c.9799T>G	NP_060606.3:p.Ser3267Ala
NM_018136.5:c.9799T>G MANE Select	NP_060606.3:p.Ser3267Ala
NM_001206846.2:c.5044T>G	NP_001193775.1:p.Ser1682Ala