Canonical Allele Identifier: CA1217930745

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103608G= , CM000663.2:g.197103608G=	GRCh38
NC_000001.10:g.197072738G= , CM000663.1:g.197072738G=	GRCh37
NC_000001.9:g.195339361G=	NCBI36
NG_015867.1:g.48087C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7444C=
ENST00000367409.9:c.5643C= MANE Select	ENSP00000356379.4:p.Leu1881=
ENST00000680265.1:c.5643C=	ENSP00000505384.1:p.Leu1881=
ENST00000680710.1:c.5643C=	ENSP00000506676.1:p.Leu1881=
ENST00000294732.11:c.4066-7444C=	ENSP00000294732.7:n.4066-7444C=
ENST00000367408.5:c.1816-7444C=	ENSP00000356378.1:n.1816-7444C=
ENST00000367409.8:c.5643C=	ENSP00000356379.4:p.Leu1881=
ENST00000612785.1:c.562-961C=	ENSP00000479244.1:n.562-961C=
NM_001206846.1:c.4066-7444C=	NP_001193775.1:n.4066-7444C=
NM_018136.4:c.5643C=	NP_060606.3:p.Leu1881=
NM_018136.5:c.5643C= MANE Select	NP_060606.3:p.Leu1881=
NM_001206846.2:c.4066-7444C=	NP_001193775.1:n.4066-7444C=