Canonical Allele Identifier: CA344042442

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2281964
• ClinVar RCV Id: RCV002830982
• gnomAD v4: 1-197124249-G-A
• MyVariant Identifiers: chr1:g.197093379G>A (hg19) ; chr1:g.197124249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124249G>A , CM000663.2:g.197124249G>A	GRCh38
NC_000001.10:g.197093379G>A , CM000663.1:g.197093379G>A	GRCh37
NC_000001.9:g.195360002G>A	NCBI36
NG_015867.1:g.27446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1293C>T
ENST00000367409.9:c.3251C>T MANE Select	ENSP00000356379.4:p.Ser1084Phe
ENST00000680112.1:n.1307C>T
ENST00000680265.1:c.3251C>T	ENSP00000505384.1:p.Ser1084Phe
ENST00000680710.1:c.3251C>T	ENSP00000506676.1:p.Ser1084Phe
ENST00000681879.1:c.3251C>T	ENSP00000505363.1:p.Ser1084Phe
ENST00000294732.11:c.3251C>T	ENSP00000294732.7:p.Ser1084Phe
ENST00000367408.5:c.1001C>T	ENSP00000356378.1:p.Ser334Phe
ENST00000367409.8:c.3251C>T	ENSP00000356379.4:p.Ser1084Phe
ENST00000612785.1:c.561+19442C>T	ENSP00000479244.1:n.561+19442C>T
NM_001206846.1:c.3251C>T	NP_001193775.1:p.Ser1084Phe
NM_018136.4:c.3251C>T	NP_060606.3:p.Ser1084Phe
NM_018136.5:c.3251C>T MANE Select	NP_060606.3:p.Ser1084Phe
NM_001206846.2:c.3251C>T	NP_001193775.1:p.Ser1084Phe