Canonical Allele Identifier: CA422672239

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057545T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088415T>A , CM000663.2:g.197088415T>A	GRCh38
NC_000001.10:g.197057545T>A , CM000663.1:g.197057545T>A	GRCh37
NC_000001.9:g.195324168T>A	NCBI36
NG_015867.1:g.63280A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3289A>T
ENST00000367409.9:c.10002A>T MANE Select	ENSP00000356379.4:p.Ser3334=
ENST00000680265.1:c.10224A>T	ENSP00000505384.1:p.Ser3408=
ENST00000680710.1:c.9978A>T	ENSP00000506676.1:p.Ser3326=
ENST00000294732.11:c.5247A>T	ENSP00000294732.7:p.Ser1749=
ENST00000367408.5:c.2997A>T	ENSP00000356378.1:p.Ser999=
ENST00000367409.8:c.10002A>T	ENSP00000356379.4:p.Ser3334=
ENST00000612785.1:c.3960A>T	ENSP00000479244.1:p.Ser1320=
NM_001206846.1:c.5247A>T	NP_001193775.1:p.Ser1749=
NM_018136.4:c.10002A>T	NP_060606.3:p.Ser3334=
NM_018136.5:c.10002A>T MANE Select	NP_060606.3:p.Ser3334=
NM_001206846.2:c.5247A>T	NP_001193775.1:p.Ser1749=