Canonical Allele Identifier: CA1308885

Gene: ASPM

Linked Data

• ClinVar Variation Id: 289606
• ClinVar RCV Id: RCV000310407 ; RCV000726348 ; RCV003940070
• dbSNP Id: rs756879923
• ExAC: 1:197059498 A / C
• gnomAD v2: 1-197059498-A-C
• gnomAD v3: 1-197090368-A-C
• gnomAD v4: 1-197090368-A-C
• MyVariant Identifiers: chr1:g.197059498A>C (hg19) ; chr1:g.197090368A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090368A>C , CM000663.2:g.197090368A>C	GRCh38
NC_000001.10:g.197059498A>C , CM000663.1:g.197059498A>C	GRCh37
NC_000001.9:g.195326121A>C	NCBI36
NG_015867.1:g.61327T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2944T>G
ENST00000367409.9:c.9657T>G MANE Select	ENSP00000356379.4:p.Ser3219=
ENST00000680265.1:c.9879T>G	ENSP00000505384.1:p.Ser3293=
ENST00000680710.1:c.9633T>G	ENSP00000506676.1:p.Ser3211=
ENST00000294732.11:c.4902T>G	ENSP00000294732.7:p.Ser1634=
ENST00000367408.5:c.2652T>G	ENSP00000356378.1:p.Ser884=
ENST00000367409.8:c.9657T>G	ENSP00000356379.4:p.Ser3219=
ENST00000612785.1:c.3615T>G	ENSP00000479244.1:p.Ser1205=
NM_001206846.1:c.4902T>G	NP_001193775.1:p.Ser1634=
NM_018136.4:c.9657T>G	NP_060606.3:p.Ser3219=
NM_018136.5:c.9657T>G MANE Select	NP_060606.3:p.Ser3219=
NM_001206846.2:c.4902T>G	NP_001193775.1:p.Ser1634=