Canonical Allele Identifier: CA422672323

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090328-G-T
• MyVariant Identifiers: chr1:g.197059458G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090328G>T , CM000663.2:g.197090328G>T	GRCh38
NC_000001.10:g.197059458G>T , CM000663.1:g.197059458G>T	GRCh37
NC_000001.9:g.195326081G>T	NCBI36
NG_015867.1:g.61367C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2984C>A
ENST00000367409.9:c.9697C>A MANE Select	ENSP00000356379.4:p.Arg3233=
ENST00000680265.1:c.9919C>A	ENSP00000505384.1:p.Arg3307=
ENST00000680710.1:c.9673C>A	ENSP00000506676.1:p.Arg3225=
ENST00000294732.11:c.4942C>A	ENSP00000294732.7:p.Arg1648=
ENST00000367408.5:c.2692C>A	ENSP00000356378.1:p.Arg898=
ENST00000367409.8:c.9697C>A	ENSP00000356379.4:p.Arg3233=
ENST00000612785.1:c.3655C>A	ENSP00000479244.1:p.Arg1219=
NM_001206846.1:c.4942C>A	NP_001193775.1:p.Arg1648=
NM_018136.4:c.9697C>A	NP_060606.3:p.Arg3233=
NM_018136.5:c.9697C>A MANE Select	NP_060606.3:p.Arg3233=
NM_001206846.2:c.4942C>A	NP_001193775.1:p.Arg1648=