Canonical Allele Identifier: CA344007131

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2500608
• ClinVar RCV Id: RCV003225520
• dbSNP Id: rs747960081
• gnomAD v2: 1-197062282-G-T
• gnomAD v3: 1-197093152-G-T
• gnomAD v4: 1-197093152-G-T
• MyVariant Identifiers: chr1:g.197062282G>T (hg19) ; chr1:g.197093152G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093152G>T , CM000663.2:g.197093152G>T	GRCh38
NC_000001.10:g.197062282G>T , CM000663.1:g.197062282G>T	GRCh37
NC_000001.9:g.195328905G>T	NCBI36
NG_015867.1:g.58543C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2481C>A
ENST00000367409.9:c.9194C>A MANE Select	ENSP00000356379.4:p.Ala3065Asp
ENST00000680265.1:c.9416C>A	ENSP00000505384.1:p.Ala3139Asp
ENST00000680710.1:c.9194C>A	ENSP00000506676.1:p.Ala3065Asp
ENST00000294732.11:c.4439C>A	ENSP00000294732.7:p.Ala1480Asp
ENST00000367408.5:c.2189C>A	ENSP00000356378.1:p.Ala730Asp
ENST00000367409.8:c.9194C>A	ENSP00000356379.4:p.Ala3065Asp
ENST00000612785.1:c.3152C>A	ENSP00000479244.1:p.Ala1051Asp
NM_001206846.1:c.4439C>A	NP_001193775.1:p.Ala1480Asp
NM_018136.4:c.9194C>A	NP_060606.3:p.Ala3065Asp
NM_018136.5:c.9194C>A MANE Select	NP_060606.3:p.Ala3065Asp
NM_001206846.2:c.4439C>A	NP_001193775.1:p.Ala1480Asp