Canonical Allele Identifier: CA344007198

Gene: ASPM

Linked Data

• dbSNP Id: rs1330737174
• gnomAD v2: 1-197062294-T-G
• gnomAD v4: 1-197093164-T-G
• MyVariant Identifiers: chr1:g.197062294T>G (hg19) ; chr1:g.197093164T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093164T>G , CM000663.2:g.197093164T>G	GRCh38
NC_000001.10:g.197062294T>G , CM000663.1:g.197062294T>G	GRCh37
NC_000001.9:g.195328917T>G	NCBI36
NG_015867.1:g.58531A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2469A>C
ENST00000367409.9:c.9182A>C MANE Select	ENSP00000356379.4:p.Lys3061Thr
ENST00000680265.1:c.9404A>C	ENSP00000505384.1:p.Lys3135Thr
ENST00000680710.1:c.9182A>C	ENSP00000506676.1:p.Lys3061Thr
ENST00000294732.11:c.4427A>C	ENSP00000294732.7:p.Lys1476Thr
ENST00000367408.5:c.2177A>C	ENSP00000356378.1:p.Lys726Thr
ENST00000367409.8:c.9182A>C	ENSP00000356379.4:p.Lys3061Thr
ENST00000612785.1:c.3140A>C	ENSP00000479244.1:p.Lys1047Thr
NM_001206846.1:c.4427A>C	NP_001193775.1:p.Lys1476Thr
NM_018136.4:c.9182A>C	NP_060606.3:p.Lys3061Thr
NM_018136.5:c.9182A>C MANE Select	NP_060606.3:p.Lys3061Thr
NM_001206846.2:c.4427A>C	NP_001193775.1:p.Lys1476Thr