Canonical Allele Identifier: CA344021314

Gene: ASPM

Linked Data

• gnomAD v4: 1-197144054-T-G
• MyVariant Identifiers: chr1:g.197113184T>G (hg19) ; chr1:g.197144054T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197144054T>G , CM000663.2:g.197144054T>G	GRCh38
NC_000001.10:g.197113184T>G , CM000663.1:g.197113184T>G	GRCh37
NC_000001.9:g.195379807T>G	NCBI36
NG_015867.1:g.7641A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.344A>C MANE Select	ENSP00000356379.4:p.Glu115Ala
ENST00000679766.1:n.561A>C
ENST00000680265.1:c.344A>C	ENSP00000505384.1:p.Glu115Ala
ENST00000680710.1:c.344A>C	ENSP00000506676.1:p.Glu115Ala
ENST00000681879.1:c.344A>C	ENSP00000505363.1:p.Glu115Ala
ENST00000294732.11:c.344A>C	ENSP00000294732.7:p.Glu115Ala
ENST00000367409.8:c.344A>C	ENSP00000356379.4:p.Glu115Ala
ENST00000612785.1:c.344A>C	ENSP00000479244.1:p.Glu115Ala
NM_001206846.1:c.344A>C	NP_001193775.1:p.Glu115Ala
NM_018136.4:c.344A>C	NP_060606.3:p.Glu115Ala
NM_018136.5:c.344A>C MANE Select	NP_060606.3:p.Glu115Ala
NM_001206846.2:c.344A>C	NP_001193775.1:p.Glu115Ala