Canonical Allele Identifier: CA422672467

Gene: ASPM

Linked Data

• dbSNP Id: rs1656764848
• gnomAD v3: 1-197090973-C-T
• gnomAD v4: 1-197090973-C-T
• MyVariant Identifiers: chr1:g.197060103C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090973C>T , CM000663.2:g.197090973C>T	GRCh38
NC_000001.10:g.197060103C>T , CM000663.1:g.197060103C>T	GRCh37
NC_000001.9:g.195326726C>T	NCBI36
NG_015867.1:g.60722G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2800G>A
ENST00000367409.9:c.9513G>A MANE Select	ENSP00000356379.4:p.Glu3171=
ENST00000680265.1:c.9735G>A	ENSP00000505384.1:p.Glu3245=
ENST00000680710.1:c.9489G>A	ENSP00000506676.1:p.Glu3163=
ENST00000294732.11:c.4758G>A	ENSP00000294732.7:p.Glu1586=
ENST00000367408.5:c.2508G>A	ENSP00000356378.1:p.Glu836=
ENST00000367409.8:c.9513G>A	ENSP00000356379.4:p.Glu3171=
ENST00000612785.1:c.3471G>A	ENSP00000479244.1:p.Glu1157=
NM_001206846.1:c.4758G>A	NP_001193775.1:p.Glu1586=
NM_018136.4:c.9513G>A	NP_060606.3:p.Glu3171=
NM_018136.5:c.9513G>A MANE Select	NP_060606.3:p.Glu3171=
NM_001206846.2:c.4758G>A	NP_001193775.1:p.Glu1586=