Canonical Allele Identifier: CA422672491

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060157T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091027T>C , CM000663.2:g.197091027T>C	GRCh38
NC_000001.10:g.197060157T>C , CM000663.1:g.197060157T>C	GRCh37
NC_000001.9:g.195326780T>C	NCBI36
NG_015867.1:g.60668A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2746A>G
ENST00000367409.9:c.9459A>G MANE Select	ENSP00000356379.4:p.Ala3153=
ENST00000680265.1:c.9681A>G	ENSP00000505384.1:p.Ala3227=
ENST00000680710.1:c.9435A>G	ENSP00000506676.1:p.Ala3145=
ENST00000294732.11:c.4704A>G	ENSP00000294732.7:p.Ala1568=
ENST00000367408.5:c.2454A>G	ENSP00000356378.1:p.Ala818=
ENST00000367409.8:c.9459A>G	ENSP00000356379.4:p.Ala3153=
ENST00000612785.1:c.3417A>G	ENSP00000479244.1:p.Ala1139=
NM_001206846.1:c.4704A>G	NP_001193775.1:p.Ala1568=
NM_018136.4:c.9459A>G	NP_060606.3:p.Ala3153=
NM_018136.5:c.9459A>G MANE Select	NP_060606.3:p.Ala3153=
NM_001206846.2:c.4704A>G	NP_001193775.1:p.Ala1568=