Canonical Allele Identifier: CA1308806

Gene: ASPM

Linked Data

• dbSNP Id: rs759599824
• ExAC: 1:197057528 T / C
• gnomAD v2: 1-197057528-T-C
• gnomAD v4: 1-197088398-T-C
• MyVariant Identifiers: chr1:g.197057528T>C (hg19) ; chr1:g.197088398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088398T>C , CM000663.2:g.197088398T>C	GRCh38
NC_000001.10:g.197057528T>C , CM000663.1:g.197057528T>C	GRCh37
NC_000001.9:g.195324151T>C	NCBI36
NG_015867.1:g.63297A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3306A>G
ENST00000367409.9:c.10019A>G MANE Select	ENSP00000356379.4:p.Glu3340Gly
ENST00000680265.1:c.10241A>G	ENSP00000505384.1:p.Glu3414Gly
ENST00000680710.1:c.9995A>G	ENSP00000506676.1:p.Glu3332Gly
ENST00000294732.11:c.5264A>G	ENSP00000294732.7:p.Glu1755Gly
ENST00000367408.5:c.3014A>G	ENSP00000356378.1:p.Glu1005Gly
ENST00000367409.8:c.10019A>G	ENSP00000356379.4:p.Glu3340Gly
ENST00000612785.1:c.3977A>G	ENSP00000479244.1:p.Glu1326Gly
NM_001206846.1:c.5264A>G	NP_001193775.1:p.Glu1755Gly
NM_018136.4:c.10019A>G	NP_060606.3:p.Glu3340Gly
NM_018136.5:c.10019A>G MANE Select	NP_060606.3:p.Glu3340Gly
NM_001206846.2:c.5264A>G	NP_001193775.1:p.Glu1755Gly