Canonical Allele Identifier: CA1309180

Gene: ASPM

Linked Data

• dbSNP Id: rs201732387
• ExAC: 1:197069737 A / G
• gnomAD v2: 1-197069737-A-G
• gnomAD v4: 1-197100607-A-G
• COSMIC: COSM4026599
• MyVariant Identifiers: chr1:g.197069737A>G (hg19) ; chr1:g.197100607A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100607A>G , CM000663.2:g.197100607A>G	GRCh38
NC_000001.10:g.197069737A>G , CM000663.1:g.197069737A>G	GRCh37
NC_000001.9:g.195336360A>G	NCBI36
NG_015867.1:g.51088T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4443T>C
ENST00000367409.9:c.8644T>C MANE Select	ENSP00000356379.4:p.Tyr2882His
ENST00000680265.1:c.8644T>C	ENSP00000505384.1:p.Tyr2882His
ENST00000680710.1:c.8644T>C	ENSP00000506676.1:p.Tyr2882His
ENST00000294732.11:c.4066-4443T>C	ENSP00000294732.7:n.4066-4443T>C
ENST00000367408.5:c.1816-4443T>C	ENSP00000356378.1:n.1816-4443T>C
ENST00000367409.8:c.8644T>C	ENSP00000356379.4:p.Tyr2882His
ENST00000612785.1:c.2602T>C	ENSP00000479244.1:p.Tyr868His
NM_001206846.1:c.4066-4443T>C	NP_001193775.1:n.4066-4443T>C
NM_018136.4:c.8644T>C	NP_060606.3:p.Tyr2882His
NM_018136.5:c.8644T>C MANE Select	NP_060606.3:p.Tyr2882His
NM_001206846.2:c.4066-4443T>C	NP_001193775.1:n.4066-4443T>C