Canonical Allele Identifier: CA344001693

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090235-T-C
• MyVariant Identifiers: chr1:g.197059365T>C (hg19) ; chr1:g.197090235T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3077A>G
ENST00000367409.9:c.9790A>G MANE Select	ENSP00000356379.4:p.Lys3264Glu
ENST00000680265.1:c.10012A>G	ENSP00000505384.1:p.Lys3338Glu
ENST00000680710.1:c.9766A>G	ENSP00000506676.1:p.Lys3256Glu
ENST00000294732.11:c.5035A>G	ENSP00000294732.7:p.Lys1679Glu
ENST00000367408.5:c.2785A>G	ENSP00000356378.1:p.Lys929Glu
ENST00000367409.8:c.9790A>G	ENSP00000356379.4:p.Lys3264Glu
ENST00000612785.1:c.3748A>G	ENSP00000479244.1:p.Lys1250Glu
NM_001206846.1:c.5035A>G	NP_001193775.1:p.Lys1679Glu
NM_018136.4:c.9790A>G	NP_060606.3:p.Lys3264Glu
NM_018136.5:c.9790A>G MANE Select	NP_060606.3:p.Lys3264Glu
NM_001206846.2:c.5035A>G	NP_001193775.1:p.Lys1679Glu