Canonical Allele Identifier: CA422805082

Gene: ASPM

Linked Data

• dbSNP Id: rs1443343127
• gnomAD v2: 1-197059330-G-A
• gnomAD v4: 1-197090200-G-A
• MyVariant Identifiers: chr1:g.197059330G>A (hg19) ; chr1:g.197090200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090200G>A , CM000663.2:g.197090200G>A	GRCh38
NC_000001.10:g.197059330G>A , CM000663.1:g.197059330G>A	GRCh37
NC_000001.9:g.195325953G>A	NCBI36
NG_015867.1:g.61495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3112C>T
ENST00000367409.9:c.9825C>T MANE Select	ENSP00000356379.4:p.His3275=
ENST00000680265.1:c.10047C>T	ENSP00000505384.1:p.His3349=
ENST00000680710.1:c.9801C>T	ENSP00000506676.1:p.His3267=
ENST00000294732.11:c.5070C>T	ENSP00000294732.7:p.His1690=
ENST00000367408.5:c.2820C>T	ENSP00000356378.1:p.His940=
ENST00000367409.8:c.9825C>T	ENSP00000356379.4:p.His3275=
ENST00000612785.1:c.3783C>T	ENSP00000479244.1:p.His1261=
NM_001206846.1:c.5070C>T	NP_001193775.1:p.His1690=
NM_018136.4:c.9825C>T	NP_060606.3:p.His3275=
NM_018136.5:c.9825C>T MANE Select	NP_060606.3:p.His3275=
NM_001206846.2:c.5070C>T	NP_001193775.1:p.His1690=