Canonical Allele Identifier: CA1217946498

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143305A= , CM000663.2:g.197143305A=	GRCh38
NC_000001.10:g.197112435A= , CM000663.1:g.197112435A=	GRCh37
NC_000001.9:g.195379058A=	NCBI36
NG_015867.1:g.8390T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.947T= MANE Select	ENSP00000356379.4:p.Leu316=
ENST00000679766.1:n.1164T=
ENST00000680265.1:c.947T=	ENSP00000505384.1:p.Leu316=
ENST00000680710.1:c.947T=	ENSP00000506676.1:p.Leu316=
ENST00000681879.1:c.947T=	ENSP00000505363.1:p.Leu316=
ENST00000294732.11:c.947T=	ENSP00000294732.7:p.Leu316=
ENST00000367409.8:c.947T=	ENSP00000356379.4:p.Leu316=
ENST00000612785.1:c.561+386T=	ENSP00000479244.1:n.561+386T=
NM_001206846.1:c.947T=	NP_001193775.1:p.Leu316=
NM_018136.4:c.947T=	NP_060606.3:p.Leu316=
NM_018136.5:c.947T= MANE Select	NP_060606.3:p.Leu316=
NM_001206846.2:c.947T=	NP_001193775.1:p.Leu316=