Canonical Allele Identifier: CA1308868

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090262G>A , CM000663.2:g.197090262G>A	GRCh38
NC_000001.10:g.197059392G>A , CM000663.1:g.197059392G>A	GRCh37
NC_000001.9:g.195326015G>A	NCBI36
NG_015867.1:g.61433C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.9763C>T MANE Select	NP_060606.3:p.Leu3255Phe
ENST00000367409.9:c.9763C>T MANE Select	ENSP00000356379.4:p.Leu3255Phe
NM_001206846.1:c.5008C>T	NP_001193775.1:p.Leu1670Phe
NM_001206846.2:c.5008C>T	NP_001193775.1:p.Leu1670Phe
NM_018136.4:c.9763C>T	NP_060606.3:p.Leu3255Phe
ENST00000294732.11:c.5008C>T	ENSP00000294732.7:p.Leu1670Phe
ENST00000367408.5:c.2758C>T	ENSP00000356378.1:p.Leu920Phe
ENST00000367408.6:n.3050C>T
ENST00000367409.8:c.9763C>T	ENSP00000356379.4:p.Leu3255Phe
ENST00000612785.1:c.3721C>T	ENSP00000479244.1:p.Leu1241Phe
ENST00000680265.1:c.9985C>T	ENSP00000505384.1:p.Leu3329Phe
ENST00000680710.1:c.9739C>T	ENSP00000506676.1:p.Leu3247Phe