Canonical Allele Identifier: CA344040183

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2491903
• ClinVar RCV Id: RCV003212960
• dbSNP Id: rs1657940861
• gnomAD v4: 1-197122432-G-C
• MyVariant Identifiers: chr1:g.197091562G>C (hg19) ; chr1:g.197122432G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122432G>C , CM000663.2:g.197122432G>C	GRCh38
NC_000001.10:g.197091562G>C , CM000663.1:g.197091562G>C	GRCh37
NC_000001.9:g.195358185G>C	NCBI36
NG_015867.1:g.29263C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.1596C>G
ENST00000367409.9:c.3554C>G MANE Select	ENSP00000356379.4:p.Ser1185Cys
ENST00000680112.1:n.1610C>G
ENST00000680265.1:c.3554C>G	ENSP00000505384.1:p.Ser1185Cys
ENST00000680710.1:c.3554C>G	ENSP00000506676.1:p.Ser1185Cys
ENST00000681879.1:c.3554C>G	ENSP00000505363.1:p.Ser1185Cys
ENST00000294732.11:c.3554C>G	ENSP00000294732.7:p.Ser1185Cys
ENST00000367408.5:c.1304C>G	ENSP00000356378.1:p.Ser435Cys
ENST00000367409.8:c.3554C>G	ENSP00000356379.4:p.Ser1185Cys
ENST00000612785.1:c.562-19785C>G	ENSP00000479244.1:n.562-19785C>G
NM_001206846.1:c.3554C>G	NP_001193775.1:p.Ser1185Cys
NM_018136.4:c.3554C>G	NP_060606.3:p.Ser1185Cys
NM_018136.5:c.3554C>G MANE Select	NP_060606.3:p.Ser1185Cys
NM_001206846.2:c.3554C>G	NP_001193775.1:p.Ser1185Cys