Canonical Allele Identifier: CA422672330

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090332-A-G
• MyVariant Identifiers: chr1:g.197059462A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090332A>G , CM000663.2:g.197090332A>G	GRCh38
NC_000001.10:g.197059462A>G , CM000663.1:g.197059462A>G	GRCh37
NC_000001.9:g.195326085A>G	NCBI36
NG_015867.1:g.61363T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2980T>C
ENST00000367409.9:c.9693T>C MANE Select	ENSP00000356379.4:p.Ala3231=
ENST00000680265.1:c.9915T>C	ENSP00000505384.1:p.Ala3305=
ENST00000680710.1:c.9669T>C	ENSP00000506676.1:p.Ala3223=
ENST00000294732.11:c.4938T>C	ENSP00000294732.7:p.Ala1646=
ENST00000367408.5:c.2688T>C	ENSP00000356378.1:p.Ala896=
ENST00000367409.8:c.9693T>C	ENSP00000356379.4:p.Ala3231=
ENST00000612785.1:c.3651T>C	ENSP00000479244.1:p.Ala1217=
NM_001206846.1:c.4938T>C	NP_001193775.1:p.Ala1646=
NM_018136.4:c.9693T>C	NP_060606.3:p.Ala3231=
NM_018136.5:c.9693T>C MANE Select	NP_060606.3:p.Ala3231=
NM_001206846.2:c.4938T>C	NP_001193775.1:p.Ala1646=