Canonical Allele Identifier: CA271151

Gene: ASPM

Linked Data

• ClinVar Variation Id: 157914
• ClinVar RCV Id: RCV000145236 ; RCV000827014 ; RCV001099803
• dbSNP Id: rs143931757
• ExAC: 1:197060124 A / G
• gnomAD v2: 1-197060124-A-G
• gnomAD v3: 1-197090994-A-G
• gnomAD v4: 1-197090994-A-G
• MyVariant Identifiers: chr1:g.197060124A>G (hg19) ; chr1:g.197090994A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090994A>G , CM000663.2:g.197090994A>G	GRCh38
NC_000001.10:g.197060124A>G , CM000663.1:g.197060124A>G	GRCh37
NC_000001.9:g.195326747A>G	NCBI36
NG_015867.1:g.60701T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2779T>C
ENST00000367409.9:c.9492T>C MANE Select	ENSP00000356379.4:p.Tyr3164=
ENST00000680265.1:c.9714T>C	ENSP00000505384.1:p.Tyr3238=
ENST00000680710.1:c.9468T>C	ENSP00000506676.1:p.Tyr3156=
ENST00000294732.11:c.4737T>C	ENSP00000294732.7:p.Tyr1579=
ENST00000367408.5:c.2487T>C	ENSP00000356378.1:p.Tyr829=
ENST00000367409.8:c.9492T>C	ENSP00000356379.4:p.Tyr3164=
ENST00000612785.1:c.3450T>C	ENSP00000479244.1:p.Tyr1150=
NM_001206846.1:c.4737T>C	NP_001193775.1:p.Tyr1579=
NM_018136.4:c.9492T>C	NP_060606.3:p.Tyr3164=
NM_018136.5:c.9492T>C MANE Select	NP_060606.3:p.Tyr3164=
NM_001206846.2:c.4737T>C	NP_001193775.1:p.Tyr1579=