Canonical Allele Identifier: CA344007399

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197062327A>C (hg19) ; chr1:g.197093197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093197A>C , CM000663.2:g.197093197A>C	GRCh38
NC_000001.10:g.197062327A>C , CM000663.1:g.197062327A>C	GRCh37
NC_000001.9:g.195328950A>C	NCBI36
NG_015867.1:g.58498T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2436T>G
ENST00000367409.9:c.9149T>G MANE Select	ENSP00000356379.4:p.Leu3050Arg
ENST00000680265.1:c.9371T>G	ENSP00000505384.1:p.Leu3124Arg
ENST00000680710.1:c.9149T>G	ENSP00000506676.1:p.Leu3050Arg
ENST00000294732.11:c.4394T>G	ENSP00000294732.7:p.Leu1465Arg
ENST00000367408.5:c.2144T>G	ENSP00000356378.1:p.Leu715Arg
ENST00000367409.8:c.9149T>G	ENSP00000356379.4:p.Leu3050Arg
ENST00000612785.1:c.3107T>G	ENSP00000479244.1:p.Leu1036Arg
NM_001206846.1:c.4394T>G	NP_001193775.1:p.Leu1465Arg
NM_018136.4:c.9149T>G	NP_060606.3:p.Leu3050Arg
NM_018136.5:c.9149T>G MANE Select	NP_060606.3:p.Leu3050Arg
NM_001206846.2:c.4394T>G	NP_001193775.1:p.Leu1465Arg