Canonical Allele Identifier: CA344001591

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1384846
• ClinVar RCV Id: RCV001902661
• dbSNP Id: rs2125088005
• MyVariant Identifiers: chr1:g.197059331T>G (hg19) ; chr1:g.197090201T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090201T>G , CM000663.2:g.197090201T>G	GRCh38
NC_000001.10:g.197059331T>G , CM000663.1:g.197059331T>G	GRCh37
NC_000001.9:g.195325954T>G	NCBI36
NG_015867.1:g.61494A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3111A>C
ENST00000367409.9:c.9824A>C MANE Select	ENSP00000356379.4:p.His3275Pro
ENST00000680265.1:c.10046A>C	ENSP00000505384.1:p.His3349Pro
ENST00000680710.1:c.9800A>C	ENSP00000506676.1:p.His3267Pro
ENST00000294732.11:c.5069A>C	ENSP00000294732.7:p.His1690Pro
ENST00000367408.5:c.2819A>C	ENSP00000356378.1:p.His940Pro
ENST00000367409.8:c.9824A>C	ENSP00000356379.4:p.His3275Pro
ENST00000612785.1:c.3782A>C	ENSP00000479244.1:p.His1261Pro
NM_001206846.1:c.5069A>C	NP_001193775.1:p.His1690Pro
NM_018136.4:c.9824A>C	NP_060606.3:p.His3275Pro
NM_018136.5:c.9824A>C MANE Select	NP_060606.3:p.His3275Pro
NM_001206846.2:c.5069A>C	NP_001193775.1:p.His1690Pro