Canonical Allele Identifier: CA1217941098

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197128596G= , CM000663.2:g.197128596G=	GRCh38
NC_000001.10:g.197097726G= , CM000663.1:g.197097726G=	GRCh37
NC_000001.9:g.195364349G=	NCBI36
NG_015867.1:g.23099C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.782C=
ENST00000367409.9:c.2830C= MANE Select	ENSP00000356379.4:p.Leu944=
ENST00000680112.1:n.886C=
ENST00000680265.1:c.2830C=	ENSP00000505384.1:p.Leu944=
ENST00000680710.1:c.2830C=	ENSP00000506676.1:p.Leu944=
ENST00000681879.1:c.2830C=	ENSP00000505363.1:p.Leu944=
ENST00000294732.11:c.2830C=	ENSP00000294732.7:p.Leu944=
ENST00000367408.5:c.580C=	ENSP00000356378.1:p.Leu194=
ENST00000367409.8:c.2830C=	ENSP00000356379.4:p.Leu944=
ENST00000612785.1:c.561+15095C=	ENSP00000479244.1:n.561+15095C=
NM_001206846.1:c.2830C=	NP_001193775.1:p.Leu944=
NM_018136.4:c.2830C=	NP_060606.3:p.Leu944=
NM_018136.5:c.2830C= MANE Select	NP_060606.3:p.Leu944=
NM_001206846.2:c.2830C=	NP_001193775.1:p.Leu944=