Canonical Allele Identifier: CA344003562

Gene: ASPM

Linked Data

• COSMIC: COSM5423869
• MyVariant Identifiers: chr1:g.197060140C>T (hg19) ; chr1:g.197091010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091010C>T , CM000663.2:g.197091010C>T	GRCh38
NC_000001.10:g.197060140C>T , CM000663.1:g.197060140C>T	GRCh37
NC_000001.9:g.195326763C>T	NCBI36
NG_015867.1:g.60685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2763G>A
ENST00000367409.9:c.9476G>A MANE Select	ENSP00000356379.4:p.Arg3159Lys
ENST00000680265.1:c.9698G>A	ENSP00000505384.1:p.Arg3233Lys
ENST00000680710.1:c.9452G>A	ENSP00000506676.1:p.Arg3151Lys
ENST00000294732.11:c.4721G>A	ENSP00000294732.7:p.Arg1574Lys
ENST00000367408.5:c.2471G>A	ENSP00000356378.1:p.Arg824Lys
ENST00000367409.8:c.9476G>A	ENSP00000356379.4:p.Arg3159Lys
ENST00000612785.1:c.3434G>A	ENSP00000479244.1:p.Arg1145Lys
NM_001206846.1:c.4721G>A	NP_001193775.1:p.Arg1574Lys
NM_018136.4:c.9476G>A	NP_060606.3:p.Arg3159Lys
NM_018136.5:c.9476G>A MANE Select	NP_060606.3:p.Arg3159Lys
NM_001206846.2:c.4721G>A	NP_001193775.1:p.Arg1574Lys