Canonical Allele Identifier: CA1308933

Gene: ASPM

Linked Data

• dbSNP Id: rs770572209
• ExAC: 1:197060109 C / A
• gnomAD v2: 1-197060109-C-A
• MyVariant Identifiers: chr1:g.197060109C>A (hg19) ; chr1:g.197090979C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090979C>A , CM000663.2:g.197090979C>A	GRCh38
NC_000001.10:g.197060109C>A , CM000663.1:g.197060109C>A	GRCh37
NC_000001.9:g.195326732C>A	NCBI36
NG_015867.1:g.60716G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2794G>T
ENST00000367409.9:c.9507G>T MANE Select	ENSP00000356379.4:p.Lys3169Asn
ENST00000680265.1:c.9729G>T	ENSP00000505384.1:p.Lys3243Asn
ENST00000680710.1:c.9483G>T	ENSP00000506676.1:p.Lys3161Asn
ENST00000294732.11:c.4752G>T	ENSP00000294732.7:p.Lys1584Asn
ENST00000367408.5:c.2502G>T	ENSP00000356378.1:p.Lys834Asn
ENST00000367409.8:c.9507G>T	ENSP00000356379.4:p.Lys3169Asn
ENST00000612785.1:c.3465G>T	ENSP00000479244.1:p.Lys1155Asn
NM_001206846.1:c.4752G>T	NP_001193775.1:p.Lys1584Asn
NM_018136.4:c.9507G>T	NP_060606.3:p.Lys3169Asn
NM_018136.5:c.9507G>T MANE Select	NP_060606.3:p.Lys3169Asn
NM_001206846.2:c.4752G>T	NP_001193775.1:p.Lys1584Asn