Canonical Allele Identifier: CA343998347

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057496G>C (hg19) ; chr1:g.197088366G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088366G>C , CM000663.2:g.197088366G>C	GRCh38
NC_000001.10:g.197057496G>C , CM000663.1:g.197057496G>C	GRCh37
NC_000001.9:g.195324119G>C	NCBI36
NG_015867.1:g.63329C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3338C>G
ENST00000367409.9:c.10051C>G MANE Select	ENSP00000356379.4:p.Gln3351Glu
ENST00000680265.1:c.10273C>G	ENSP00000505384.1:p.Gln3425Glu
ENST00000680710.1:c.10027C>G	ENSP00000506676.1:p.Gln3343Glu
ENST00000294732.11:c.5296C>G	ENSP00000294732.7:p.Gln1766Glu
ENST00000367408.5:c.3046C>G	ENSP00000356378.1:p.Gln1016Glu
ENST00000367409.8:c.10051C>G	ENSP00000356379.4:p.Gln3351Glu
ENST00000612785.1:c.4009C>G	ENSP00000479244.1:p.Gln1337Glu
NM_001206846.1:c.5296C>G	NP_001193775.1:p.Gln1766Glu
NM_018136.4:c.10051C>G	NP_060606.3:p.Gln3351Glu
NM_018136.5:c.10051C>G MANE Select	NP_060606.3:p.Gln3351Glu
NM_001206846.2:c.5296C>G	NP_001193775.1:p.Gln1766Glu