Canonical Allele Identifier: CA528279140

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2091031
• ClinVar RCV Id: RCV003013404
• dbSNP Id: rs1170390363
• gnomAD v2: 1-197059537-A-G
• gnomAD v4: 1-197090407-A-G
• MyVariant Identifiers: chr1:g.197059537A>G (hg19) ; chr1:g.197090407A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090407A>G , CM000663.2:g.197090407A>G	GRCh38
NC_000001.10:g.197059537A>G , CM000663.1:g.197059537A>G	GRCh37
NC_000001.9:g.195326160A>G	NCBI36
NG_015867.1:g.61288T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2924-19T>C
ENST00000367409.9:c.9637-19T>C MANE Select	ENSP00000356379.4:n.9637-19T>C
ENST00000680265.1:c.9859-19T>C	ENSP00000505384.1:n.9859-19T>C
ENST00000680710.1:c.9613-19T>C	ENSP00000506676.1:n.9613-19T>C
ENST00000294732.11:c.4882-19T>C	ENSP00000294732.7:n.4882-19T>C
ENST00000367408.5:c.2632-19T>C	ENSP00000356378.1:n.2632-19T>C
ENST00000367409.8:c.9637-19T>C	ENSP00000356379.4:n.9637-19T>C
ENST00000612785.1:c.3595-19T>C	ENSP00000479244.1:n.3595-19T>C
NM_001206846.1:c.4882-19T>C	NP_001193775.1:n.4882-19T>C
NM_018136.4:c.9637-19T>C	NP_060606.3:n.9637-19T>C
NM_018136.5:c.9637-19T>C MANE Select	NP_060606.3:n.9637-19T>C
NM_001206846.2:c.4882-19T>C	NP_001193775.1:n.4882-19T>C