Canonical Allele Identifier: CA344013789

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1433831
• ClinVar RCV Id: RCV001984460
• dbSNP Id: rs2125093619
• MyVariant Identifiers: chr1:g.197070132C>G (hg19) ; chr1:g.197101002C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101002C>G , CM000663.2:g.197101002C>G	GRCh38
NC_000001.10:g.197070132C>G , CM000663.1:g.197070132C>G	GRCh37
NC_000001.9:g.195336755C>G	NCBI36
NG_015867.1:g.50693G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4838G>C
ENST00000367409.9:c.8249G>C MANE Select	ENSP00000356379.4:p.Arg2750Thr
ENST00000680265.1:c.8249G>C	ENSP00000505384.1:p.Arg2750Thr
ENST00000680710.1:c.8249G>C	ENSP00000506676.1:p.Arg2750Thr
ENST00000294732.11:c.4066-4838G>C	ENSP00000294732.7:n.4066-4838G>C
ENST00000367408.5:c.1816-4838G>C	ENSP00000356378.1:n.1816-4838G>C
ENST00000367409.8:c.8249G>C	ENSP00000356379.4:p.Arg2750Thr
ENST00000612785.1:c.2207G>C	ENSP00000479244.1:p.Arg736Thr
NM_001206846.1:c.4066-4838G>C	NP_001193775.1:n.4066-4838G>C
NM_018136.4:c.8249G>C	NP_060606.3:p.Arg2750Thr
NM_018136.5:c.8249G>C MANE Select	NP_060606.3:p.Arg2750Thr
NM_001206846.2:c.4066-4838G>C	NP_001193775.1:n.4066-4838G>C