Canonical Allele Identifier: CA344045954

Gene: ASPM

Linked Data

• COSMIC: COSM5767934
• MyVariant Identifiers: chr1:g.197094305G>C (hg19) ; chr1:g.197125175G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197125175G>C , CM000663.2:g.197125175G>C	GRCh38
NC_000001.10:g.197094305G>C , CM000663.1:g.197094305G>C	GRCh37
NC_000001.9:g.195360928G>C	NCBI36
NG_015867.1:g.26520C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.905C>G
ENST00000367409.9:c.2953C>G MANE Select	ENSP00000356379.4:p.Leu985Val
ENST00000680112.1:n.1009C>G
ENST00000680265.1:c.2953C>G	ENSP00000505384.1:p.Leu985Val
ENST00000680710.1:c.2953C>G	ENSP00000506676.1:p.Leu985Val
ENST00000681879.1:c.2953C>G	ENSP00000505363.1:p.Leu985Val
ENST00000294732.11:c.2953C>G	ENSP00000294732.7:p.Leu985Val
ENST00000367408.5:c.703C>G	ENSP00000356378.1:p.Leu235Val
ENST00000367409.8:c.2953C>G	ENSP00000356379.4:p.Leu985Val
ENST00000612785.1:c.561+18516C>G	ENSP00000479244.1:n.561+18516C>G
NM_001206846.1:c.2953C>G	NP_001193775.1:p.Leu985Val
NM_018136.4:c.2953C>G	NP_060606.3:p.Leu985Val
NM_018136.5:c.2953C>G MANE Select	NP_060606.3:p.Leu985Val
NM_001206846.2:c.2953C>G	NP_001193775.1:p.Leu985Val