Canonical Allele Identifier: CA1217925907

Gene: ASPM

Linked Data

• dbSNP Id: rs1656767783
• gnomAD v4: 1-197091045-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091045T>C , CM000663.2:g.197091045T>C	GRCh38
NC_000001.10:g.197060175T>C , CM000663.1:g.197060175T>C	GRCh37
NC_000001.9:g.195326798T>C	NCBI36
NG_015867.1:g.60650A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2732-4A>G
ENST00000367409.9:c.9445-4A>G MANE Select	ENSP00000356379.4:n.9445-4A>G
ENST00000680265.1:c.9667-4A>G	ENSP00000505384.1:n.9667-4A>G
ENST00000680710.1:c.9421-4A>G	ENSP00000506676.1:n.9421-4A>G
ENST00000294732.11:c.4690-4A>G	ENSP00000294732.7:n.4690-4A>G
ENST00000367408.5:c.2440-4A>G	ENSP00000356378.1:n.2440-4A>G
ENST00000367409.8:c.9445-4A>G	ENSP00000356379.4:n.9445-4A>G
ENST00000612785.1:c.3403-4A>G	ENSP00000479244.1:n.3403-4A>G
NM_001206846.1:c.4690-4A>G	NP_001193775.1:n.4690-4A>G
NM_018136.4:c.9445-4A>G	NP_060606.3:n.9445-4A>G
NM_018136.5:c.9445-4A>G MANE Select	NP_060606.3:n.9445-4A>G
NM_001206846.2:c.4690-4A>G	NP_001193775.1:n.4690-4A>G