Canonical Allele Identifier: CA344001710

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059373A>C (hg19) ; chr1:g.197090243A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090243A>C , CM000663.2:g.197090243A>C	GRCh38
NC_000001.10:g.197059373A>C , CM000663.1:g.197059373A>C	GRCh37
NC_000001.9:g.195325996A>C	NCBI36
NG_015867.1:g.61452T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3069T>G
ENST00000367409.9:c.9782T>G MANE Select	ENSP00000356379.4:p.Leu3261Trp
ENST00000680265.1:c.10004T>G	ENSP00000505384.1:p.Leu3335Trp
ENST00000680710.1:c.9758T>G	ENSP00000506676.1:p.Leu3253Trp
ENST00000294732.11:c.5027T>G	ENSP00000294732.7:p.Leu1676Trp
ENST00000367408.5:c.2777T>G	ENSP00000356378.1:p.Leu926Trp
ENST00000367409.8:c.9782T>G	ENSP00000356379.4:p.Leu3261Trp
ENST00000612785.1:c.3740T>G	ENSP00000479244.1:p.Leu1247Trp
NM_001206846.1:c.5027T>G	NP_001193775.1:p.Leu1676Trp
NM_018136.4:c.9782T>G	NP_060606.3:p.Leu3261Trp
NM_018136.5:c.9782T>G MANE Select	NP_060606.3:p.Leu3261Trp
NM_001206846.2:c.5027T>G	NP_001193775.1:p.Leu1676Trp