Canonical Allele Identifier: CA1310814

Gene: ASPM

Linked Data

• ClinVar Variation Id: 975502
• ClinVar RCV Id: RCV001252165
• dbSNP Id: rs767536421
• ExAC: 1:197112621 T / C
• gnomAD v2: 1-197112621-T-C
• gnomAD v3: 1-197143491-T-C
• gnomAD v4: 1-197143491-T-C
• MyVariant Identifiers: chr1:g.197112621T>C (hg19) ; chr1:g.197143491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143491T>C , CM000663.2:g.197143491T>C	GRCh38
NC_000001.10:g.197112621T>C , CM000663.1:g.197112621T>C	GRCh37
NC_000001.9:g.195379244T>C	NCBI36
NG_015867.1:g.8204A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.761A>G MANE Select	ENSP00000356379.4:p.Glu254Gly
ENST00000679766.1:n.978A>G
ENST00000680265.1:c.761A>G	ENSP00000505384.1:p.Glu254Gly
ENST00000680710.1:c.761A>G	ENSP00000506676.1:p.Glu254Gly
ENST00000681879.1:c.761A>G	ENSP00000505363.1:p.Glu254Gly
ENST00000294732.11:c.761A>G	ENSP00000294732.7:p.Glu254Gly
ENST00000367409.8:c.761A>G	ENSP00000356379.4:p.Glu254Gly
ENST00000612785.1:c.561+200A>G	ENSP00000479244.1:n.561+200A>G
NM_001206846.1:c.761A>G	NP_001193775.1:p.Glu254Gly
NM_018136.4:c.761A>G	NP_060606.3:p.Glu254Gly
NM_018136.5:c.761A>G MANE Select	NP_060606.3:p.Glu254Gly
NM_001206846.2:c.761A>G	NP_001193775.1:p.Glu254Gly