Canonical Allele Identifier: CA343998446

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057506C>A (hg19) ; chr1:g.197088376C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088376C>A , CM000663.2:g.197088376C>A	GRCh38
NC_000001.10:g.197057506C>A , CM000663.1:g.197057506C>A	GRCh37
NC_000001.9:g.195324129C>A	NCBI36
NG_015867.1:g.63319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3328G>T
ENST00000367409.9:c.10041G>T MANE Select	ENSP00000356379.4:p.Leu3347Phe
ENST00000680265.1:c.10263G>T	ENSP00000505384.1:p.Leu3421Phe
ENST00000680710.1:c.10017G>T	ENSP00000506676.1:p.Leu3339Phe
ENST00000294732.11:c.5286G>T	ENSP00000294732.7:p.Leu1762Phe
ENST00000367408.5:c.3036G>T	ENSP00000356378.1:p.Leu1012Phe
ENST00000367409.8:c.10041G>T	ENSP00000356379.4:p.Leu3347Phe
ENST00000612785.1:c.3999G>T	ENSP00000479244.1:p.Leu1333Phe
NM_001206846.1:c.5286G>T	NP_001193775.1:p.Leu1762Phe
NM_018136.4:c.10041G>T	NP_060606.3:p.Leu3347Phe
NM_018136.5:c.10041G>T MANE Select	NP_060606.3:p.Leu3347Phe
NM_001206846.2:c.5286G>T	NP_001193775.1:p.Leu1762Phe