Canonical Allele Identifier: CA1217930490

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102973A= , CM000663.2:g.197102973A=	GRCh38
NC_000001.10:g.197072103A= , CM000663.1:g.197072103A=	GRCh37
NC_000001.9:g.195338726A=	NCBI36
NG_015867.1:g.48722T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-6809T=
ENST00000367409.9:c.6278T= MANE Select	ENSP00000356379.4:p.Leu2093=
ENST00000680265.1:c.6278T=	ENSP00000505384.1:p.Leu2093=
ENST00000680710.1:c.6278T=	ENSP00000506676.1:p.Leu2093=
ENST00000294732.11:c.4066-6809T=	ENSP00000294732.7:n.4066-6809T=
ENST00000367408.5:c.1816-6809T=	ENSP00000356378.1:n.1816-6809T=
ENST00000367409.8:c.6278T=	ENSP00000356379.4:p.Leu2093=
ENST00000612785.1:c.562-326T=	ENSP00000479244.1:n.562-326T=
NM_001206846.1:c.4066-6809T=	NP_001193775.1:n.4066-6809T=
NM_018136.4:c.6278T=	NP_060606.3:p.Leu2093=
NM_018136.5:c.6278T= MANE Select	NP_060606.3:p.Leu2093=
NM_001206846.2:c.4066-6809T=	NP_001193775.1:n.4066-6809T=