Canonical Allele Identifier: CA344001701

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090238-A-G
• MyVariant Identifiers: chr1:g.197059368A>G (hg19) ; chr1:g.197090238A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090238A>G , CM000663.2:g.197090238A>G	GRCh38
NC_000001.10:g.197059368A>G , CM000663.1:g.197059368A>G	GRCh37
NC_000001.9:g.195325991A>G	NCBI36
NG_015867.1:g.61457T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3074T>C
ENST00000367409.9:c.9787T>C MANE Select	ENSP00000356379.4:p.Tyr3263His
ENST00000680265.1:c.10009T>C	ENSP00000505384.1:p.Tyr3337His
ENST00000680710.1:c.9763T>C	ENSP00000506676.1:p.Tyr3255His
ENST00000294732.11:c.5032T>C	ENSP00000294732.7:p.Tyr1678His
ENST00000367408.5:c.2782T>C	ENSP00000356378.1:p.Tyr928His
ENST00000367409.8:c.9787T>C	ENSP00000356379.4:p.Tyr3263His
ENST00000612785.1:c.3745T>C	ENSP00000479244.1:p.Tyr1249His
NM_001206846.1:c.5032T>C	NP_001193775.1:p.Tyr1678His
NM_018136.4:c.9787T>C	NP_060606.3:p.Tyr3263His
NM_018136.5:c.9787T>C MANE Select	NP_060606.3:p.Tyr3263His
NM_001206846.2:c.5032T>C	NP_001193775.1:p.Tyr1678His