Canonical Allele Identifier: CA422672227

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057530T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088400T>A , CM000663.2:g.197088400T>A	GRCh38
NC_000001.10:g.197057530T>A , CM000663.1:g.197057530T>A	GRCh37
NC_000001.9:g.195324153T>A	NCBI36
NG_015867.1:g.63295A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3304A>T
ENST00000367409.9:c.10017A>T MANE Select	ENSP00000356379.4:p.Val3339=
ENST00000680265.1:c.10239A>T	ENSP00000505384.1:p.Val3413=
ENST00000680710.1:c.9993A>T	ENSP00000506676.1:p.Val3331=
ENST00000294732.11:c.5262A>T	ENSP00000294732.7:p.Val1754=
ENST00000367408.5:c.3012A>T	ENSP00000356378.1:p.Val1004=
ENST00000367409.8:c.10017A>T	ENSP00000356379.4:p.Val3339=
ENST00000612785.1:c.3975A>T	ENSP00000479244.1:p.Val1325=
NM_001206846.1:c.5262A>T	NP_001193775.1:p.Val1754=
NM_018136.4:c.10017A>T	NP_060606.3:p.Val3339=
NM_018136.5:c.10017A>T MANE Select	NP_060606.3:p.Val3339=
NM_001206846.2:c.5262A>T	NP_001193775.1:p.Val1754=