Canonical Allele Identifier: CA1310335

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2367208
• ClinVar RCV Id: RCV002990907
• dbSNP Id: rs369976457
• ExAC: 1:197097695 A / C
• gnomAD v2: 1-197097695-A-C
• gnomAD v3: 1-197128565-A-C
• gnomAD v4: 1-197128565-A-C
• MyVariant Identifiers: chr1:g.197097695A>C (hg19) ; chr1:g.197128565A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197128565A>C , CM000663.2:g.197128565A>C	GRCh38
NC_000001.10:g.197097695A>C , CM000663.1:g.197097695A>C	GRCh37
NC_000001.9:g.195364318A>C	NCBI36
NG_015867.1:g.23130T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.813T>G
ENST00000367409.9:c.2861T>G MANE Select	ENSP00000356379.4:p.Val954Gly
ENST00000680112.1:n.917T>G
ENST00000680265.1:c.2861T>G	ENSP00000505384.1:p.Val954Gly
ENST00000680710.1:c.2861T>G	ENSP00000506676.1:p.Val954Gly
ENST00000681879.1:c.2861T>G	ENSP00000505363.1:p.Val954Gly
ENST00000294732.11:c.2861T>G	ENSP00000294732.7:p.Val954Gly
ENST00000367408.5:c.611T>G	ENSP00000356378.1:p.Val204Gly
ENST00000367409.8:c.2861T>G	ENSP00000356379.4:p.Val954Gly
ENST00000612785.1:c.561+15126T>G	ENSP00000479244.1:n.561+15126T>G
NM_001206846.1:c.2861T>G	NP_001193775.1:p.Val954Gly
NM_018136.4:c.2861T>G	NP_060606.3:p.Val954Gly
NM_018136.5:c.2861T>G MANE Select	NP_060606.3:p.Val954Gly
NM_001206846.2:c.2861T>G	NP_001193775.1:p.Val954Gly