Canonical Allele Identifier: CA422673217

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197062344T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093214T>C , CM000663.2:g.197093214T>C	GRCh38
NC_000001.10:g.197062344T>C , CM000663.1:g.197062344T>C	GRCh37
NC_000001.9:g.195328967T>C	NCBI36
NG_015867.1:g.58481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2419A>G
ENST00000367409.9:c.9132A>G MANE Select	ENSP00000356379.4:p.Lys3044=
ENST00000680265.1:c.9354A>G	ENSP00000505384.1:p.Lys3118=
ENST00000680710.1:c.9132A>G	ENSP00000506676.1:p.Lys3044=
ENST00000294732.11:c.4377A>G	ENSP00000294732.7:p.Lys1459=
ENST00000367408.5:c.2127A>G	ENSP00000356378.1:p.Lys709=
ENST00000367409.8:c.9132A>G	ENSP00000356379.4:p.Lys3044=
ENST00000612785.1:c.3090A>G	ENSP00000479244.1:p.Lys1030=
NM_001206846.1:c.4377A>G	NP_001193775.1:p.Lys1459=
NM_018136.4:c.9132A>G	NP_060606.3:p.Lys3044=
NM_018136.5:c.9132A>G MANE Select	NP_060606.3:p.Lys3044=
NM_001206846.2:c.4377A>G	NP_001193775.1:p.Lys1459=