Canonical Allele Identifier: CA344002974

Gene: ASPM

Linked Data

• dbSNP Id: rs1254782774
• gnomAD v2: 1-197060087-A-G
• gnomAD v4: 1-197090957-A-G
• MyVariant Identifiers: chr1:g.197060087A>G (hg19) ; chr1:g.197090957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090957A>G , CM000663.2:g.197090957A>G	GRCh38
NC_000001.10:g.197060087A>G , CM000663.1:g.197060087A>G	GRCh37
NC_000001.9:g.195326710A>G	NCBI36
NG_015867.1:g.60738T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2816T>C
ENST00000367409.9:c.9529T>C MANE Select	ENSP00000356379.4:p.Cys3177Arg
ENST00000680265.1:c.9751T>C	ENSP00000505384.1:p.Cys3251Arg
ENST00000680710.1:c.9505T>C	ENSP00000506676.1:p.Cys3169Arg
ENST00000294732.11:c.4774T>C	ENSP00000294732.7:p.Cys1592Arg
ENST00000367408.5:c.2524T>C	ENSP00000356378.1:p.Cys842Arg
ENST00000367409.8:c.9529T>C	ENSP00000356379.4:p.Cys3177Arg
ENST00000612785.1:c.3487T>C	ENSP00000479244.1:p.Cys1163Arg
NM_001206846.1:c.4774T>C	NP_001193775.1:p.Cys1592Arg
NM_018136.4:c.9529T>C	NP_060606.3:p.Cys3177Arg
NM_018136.5:c.9529T>C MANE Select	NP_060606.3:p.Cys3177Arg
NM_001206846.2:c.4774T>C	NP_001193775.1:p.Cys1592Arg