Canonical Allele Identifier: CA422672475

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090991-A-G
• MyVariant Identifiers: chr1:g.197060121A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090991A>G , CM000663.2:g.197090991A>G	GRCh38
NC_000001.10:g.197060121A>G , CM000663.1:g.197060121A>G	GRCh37
NC_000001.9:g.195326744A>G	NCBI36
NG_015867.1:g.60704T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2782T>C
ENST00000367409.9:c.9495T>C MANE Select	ENSP00000356379.4:p.His3165=
ENST00000680265.1:c.9717T>C	ENSP00000505384.1:p.His3239=
ENST00000680710.1:c.9471T>C	ENSP00000506676.1:p.His3157=
ENST00000294732.11:c.4740T>C	ENSP00000294732.7:p.His1580=
ENST00000367408.5:c.2490T>C	ENSP00000356378.1:p.His830=
ENST00000367409.8:c.9495T>C	ENSP00000356379.4:p.His3165=
ENST00000612785.1:c.3453T>C	ENSP00000479244.1:p.His1151=
NM_001206846.1:c.4740T>C	NP_001193775.1:p.His1580=
NM_018136.4:c.9495T>C	NP_060606.3:p.His3165=
NM_018136.5:c.9495T>C MANE Select	NP_060606.3:p.His3165=
NM_001206846.2:c.4740T>C	NP_001193775.1:p.His1580=