Canonical Allele Identifier: CA344002324

Gene: ASPM

Linked Data

• dbSNP Id: rs1246840322
• gnomAD v2: 1-197059996-C-T
• gnomAD v4: 1-197090866-C-T
• MyVariant Identifiers: chr1:g.197059996C>T (hg19) ; chr1:g.197090866C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090866C>T , CM000663.2:g.197090866C>T	GRCh38
NC_000001.10:g.197059996C>T , CM000663.1:g.197059996C>T	GRCh37
NC_000001.9:g.195326619C>T	NCBI36
NG_015867.1:g.60829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2907G>A
ENST00000367409.9:c.9620G>A MANE Select	ENSP00000356379.4:p.Gly3207Glu
ENST00000680265.1:c.9842G>A	ENSP00000505384.1:p.Gly3281Glu
ENST00000680710.1:c.9596G>A	ENSP00000506676.1:p.Gly3199Glu
ENST00000294732.11:c.4865G>A	ENSP00000294732.7:p.Gly1622Glu
ENST00000367408.5:c.2615G>A	ENSP00000356378.1:p.Gly872Glu
ENST00000367409.8:c.9620G>A	ENSP00000356379.4:p.Gly3207Glu
ENST00000612785.1:c.3578G>A	ENSP00000479244.1:p.Gly1193Glu
NM_001206846.1:c.4865G>A	NP_001193775.1:p.Gly1622Glu
NM_018136.4:c.9620G>A	NP_060606.3:p.Gly3207Glu
NM_018136.5:c.9620G>A MANE Select	NP_060606.3:p.Gly3207Glu
NM_001206846.2:c.4865G>A	NP_001193775.1:p.Gly1622Glu