Canonical Allele Identifier: CA343998650

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057533A>C (hg19) ; chr1:g.197088403A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088403A>C , CM000663.2:g.197088403A>C	GRCh38
NC_000001.10:g.197057533A>C , CM000663.1:g.197057533A>C	GRCh37
NC_000001.9:g.195324156A>C	NCBI36
NG_015867.1:g.63292T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3301T>G
ENST00000367409.9:c.10014T>G MANE Select	ENSP00000356379.4:p.Asp3338Glu
ENST00000680265.1:c.10236T>G	ENSP00000505384.1:p.Asp3412Glu
ENST00000680710.1:c.9990T>G	ENSP00000506676.1:p.Asp3330Glu
ENST00000294732.11:c.5259T>G	ENSP00000294732.7:p.Asp1753Glu
ENST00000367408.5:c.3009T>G	ENSP00000356378.1:p.Asp1003Glu
ENST00000367409.8:c.10014T>G	ENSP00000356379.4:p.Asp3338Glu
ENST00000612785.1:c.3972T>G	ENSP00000479244.1:p.Asp1324Glu
NM_001206846.1:c.5259T>G	NP_001193775.1:p.Asp1753Glu
NM_018136.4:c.10014T>G	NP_060606.3:p.Asp3338Glu
NM_018136.5:c.10014T>G MANE Select	NP_060606.3:p.Asp3338Glu
NM_001206846.2:c.5259T>G	NP_001193775.1:p.Asp1753Glu