Canonical Allele Identifier: CA1308793

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2118408
• ClinVar RCV Id: RCV003053615
• dbSNP Id: rs756975140
• ExAC: 1:197057421 A / G
• gnomAD v2: 1-197057421-A-G
• gnomAD v3: 1-197088291-A-G
• gnomAD v4: 1-197088291-A-G
• MyVariant Identifiers: chr1:g.197057421A>G (hg19) ; chr1:g.197088291A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088291A>G , CM000663.2:g.197088291A>G	GRCh38
NC_000001.10:g.197057421A>G , CM000663.1:g.197057421A>G	GRCh37
NC_000001.9:g.195324044A>G	NCBI36
NG_015867.1:g.63404T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3413T>C
ENST00000367409.9:c.10126T>C MANE Select	ENSP00000356379.4:p.Leu3376=
ENST00000680265.1:c.10348T>C	ENSP00000505384.1:p.Leu3450=
ENST00000680710.1:c.10102T>C	ENSP00000506676.1:p.Leu3368=
ENST00000294732.11:c.5371T>C	ENSP00000294732.7:p.Leu1791=
ENST00000367408.5:c.3121T>C	ENSP00000356378.1:p.Leu1041=
ENST00000367409.8:c.10126T>C	ENSP00000356379.4:p.Leu3376=
ENST00000612785.1:c.4084T>C	ENSP00000479244.1:p.Leu1362=
NM_001206846.1:c.5371T>C	NP_001193775.1:p.Leu1791=
NM_018136.4:c.10126T>C	NP_060606.3:p.Leu3376=
NM_018136.5:c.10126T>C MANE Select	NP_060606.3:p.Leu3376=
NM_001206846.2:c.5371T>C	NP_001193775.1:p.Leu1791=