Canonical Allele Identifier: CA344003054

Gene: ASPM

Linked Data

• dbSNP Id: rs746455693
• MyVariant Identifiers: chr1:g.197060095C>A (hg19) ; chr1:g.197090965C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090965C>A , CM000663.2:g.197090965C>A	GRCh38
NC_000001.10:g.197060095C>A , CM000663.1:g.197060095C>A	GRCh37
NC_000001.9:g.195326718C>A	NCBI36
NG_015867.1:g.60730G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2808G>T
ENST00000367409.9:c.9521G>T MANE Select	ENSP00000356379.4:p.Gly3174Val
ENST00000680265.1:c.9743G>T	ENSP00000505384.1:p.Gly3248Val
ENST00000680710.1:c.9497G>T	ENSP00000506676.1:p.Gly3166Val
ENST00000294732.11:c.4766G>T	ENSP00000294732.7:p.Gly1589Val
ENST00000367408.5:c.2516G>T	ENSP00000356378.1:p.Gly839Val
ENST00000367409.8:c.9521G>T	ENSP00000356379.4:p.Gly3174Val
ENST00000612785.1:c.3479G>T	ENSP00000479244.1:p.Gly1160Val
NM_001206846.1:c.4766G>T	NP_001193775.1:p.Gly1589Val
NM_018136.4:c.9521G>T	NP_060606.3:p.Gly3174Val
NM_018136.5:c.9521G>T MANE Select	NP_060606.3:p.Gly3174Val
NM_001206846.2:c.4766G>T	NP_001193775.1:p.Gly1589Val