Canonical Allele Identifier: CA343998439

Gene: ASPM

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3329G>C
ENST00000367409.9:c.10042G>C MANE Select	ENSP00000356379.4:p.Glu3348Gln
ENST00000680265.1:c.10264G>C	ENSP00000505384.1:p.Glu3422Gln
ENST00000680710.1:c.10018G>C	ENSP00000506676.1:p.Glu3340Gln
ENST00000294732.11:c.5287G>C	ENSP00000294732.7:p.Glu1763Gln
ENST00000367408.5:c.3037G>C	ENSP00000356378.1:p.Glu1013Gln
ENST00000367409.8:c.10042G>C	ENSP00000356379.4:p.Glu3348Gln
ENST00000612785.1:c.4000G>C	ENSP00000479244.1:p.Glu1334Gln
NM_001206846.1:c.5287G>C	NP_001193775.1:p.Glu1763Gln
NM_018136.4:c.10042G>C	NP_060606.3:p.Glu3348Gln
NM_018136.5:c.10042G>C MANE Select	NP_060606.3:p.Glu3348Gln
NM_001206846.2:c.5287G>C	NP_001193775.1:p.Glu1763Gln