Canonical Allele Identifier: CA422672231

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057539A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088409A>C , CM000663.2:g.197088409A>C	GRCh38
NC_000001.10:g.197057539A>C , CM000663.1:g.197057539A>C	GRCh37
NC_000001.9:g.195324162A>C	NCBI36
NG_015867.1:g.63286T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3295T>G
ENST00000367409.9:c.10008T>G MANE Select	ENSP00000356379.4:p.Val3336=
ENST00000680265.1:c.10230T>G	ENSP00000505384.1:p.Val3410=
ENST00000680710.1:c.9984T>G	ENSP00000506676.1:p.Val3328=
ENST00000294732.11:c.5253T>G	ENSP00000294732.7:p.Val1751=
ENST00000367408.5:c.3003T>G	ENSP00000356378.1:p.Val1001=
ENST00000367409.8:c.10008T>G	ENSP00000356379.4:p.Val3336=
ENST00000612785.1:c.3966T>G	ENSP00000479244.1:p.Val1322=
NM_001206846.1:c.5253T>G	NP_001193775.1:p.Val1751=
NM_018136.4:c.10008T>G	NP_060606.3:p.Val3336=
NM_018136.5:c.10008T>G MANE Select	NP_060606.3:p.Val3336=
NM_001206846.2:c.5253T>G	NP_001193775.1:p.Val1751=