Canonical Allele Identifier: CA1309100

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197095999G>A , CM000663.2:g.197095999G>A	GRCh38
NC_000001.10:g.197065129G>A , CM000663.1:g.197065129G>A	GRCh37
NC_000001.9:g.195331752G>A	NCBI36
NG_015867.1:g.55696C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.8986C>T MANE Select	NP_060606.3:p.Arg2996Trp
ENST00000367409.9:c.8986C>T MANE Select	ENSP00000356379.4:p.Arg2996Trp
NM_001206846.1:c.4231C>T	NP_001193775.1:p.Arg1411Trp
NM_001206846.2:c.4231C>T	NP_001193775.1:p.Arg1411Trp
NM_018136.4:c.8986C>T	NP_060606.3:p.Arg2996Trp
ENST00000294732.11:c.4231C>T	ENSP00000294732.7:p.Arg1411Trp
ENST00000367408.5:c.1981C>T	ENSP00000356378.1:p.Arg661Trp
ENST00000367408.6:n.2273C>T
ENST00000367409.8:c.8986C>T	ENSP00000356379.4:p.Arg2996Trp
ENST00000612785.1:c.2944C>T	ENSP00000479244.1:p.Arg982Trp
ENST00000680265.1:c.9208C>T	ENSP00000505384.1:p.Arg3070Trp
ENST00000680710.1:c.8986C>T	ENSP00000506676.1:p.Arg2996Trp