Canonical Allele Identifier: CA344001694

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059365T>G (hg19) ; chr1:g.197090235T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090235T>G , CM000663.2:g.197090235T>G	GRCh38
NC_000001.10:g.197059365T>G , CM000663.1:g.197059365T>G	GRCh37
NC_000001.9:g.195325988T>G	NCBI36
NG_015867.1:g.61460A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3077A>C
ENST00000367409.9:c.9790A>C MANE Select	ENSP00000356379.4:p.Lys3264Gln
ENST00000680265.1:c.10012A>C	ENSP00000505384.1:p.Lys3338Gln
ENST00000680710.1:c.9766A>C	ENSP00000506676.1:p.Lys3256Gln
ENST00000294732.11:c.5035A>C	ENSP00000294732.7:p.Lys1679Gln
ENST00000367408.5:c.2785A>C	ENSP00000356378.1:p.Lys929Gln
ENST00000367409.8:c.9790A>C	ENSP00000356379.4:p.Lys3264Gln
ENST00000612785.1:c.3748A>C	ENSP00000479244.1:p.Lys1250Gln
NM_001206846.1:c.5035A>C	NP_001193775.1:p.Lys1679Gln
NM_018136.4:c.9790A>C	NP_060606.3:p.Lys3264Gln
NM_018136.5:c.9790A>C MANE Select	NP_060606.3:p.Lys3264Gln
NM_001206846.2:c.5035A>C	NP_001193775.1:p.Lys1679Gln