Canonical Allele Identifier: CA343998436

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057505C>A (hg19) ; chr1:g.197088375C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088375C>A , CM000663.2:g.197088375C>A	GRCh38
NC_000001.10:g.197057505C>A , CM000663.1:g.197057505C>A	GRCh37
NC_000001.9:g.195324128C>A	NCBI36
NG_015867.1:g.63320G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3329G>T
ENST00000367409.9:c.10042G>T MANE Select	ENSP00000356379.4:p.Glu3348Ter
ENST00000680265.1:c.10264G>T	ENSP00000505384.1:p.Glu3422Ter
ENST00000680710.1:c.10018G>T	ENSP00000506676.1:p.Glu3340Ter
ENST00000294732.11:c.5287G>T	ENSP00000294732.7:p.Glu1763Ter
ENST00000367408.5:c.3037G>T	ENSP00000356378.1:p.Glu1013Ter
ENST00000367409.8:c.10042G>T	ENSP00000356379.4:p.Glu3348Ter
ENST00000612785.1:c.4000G>T	ENSP00000479244.1:p.Glu1334Ter
NM_001206846.1:c.5287G>T	NP_001193775.1:p.Glu1763Ter
NM_018136.4:c.10042G>T	NP_060606.3:p.Glu3348Ter
NM_018136.5:c.10042G>T MANE Select	NP_060606.3:p.Glu3348Ter
NM_001206846.2:c.5287G>T	NP_001193775.1:p.Glu1763Ter