Canonical Allele Identifier: CA2649661097

Gene: ASPM

Linked Data

• gnomAD v4: 1-197092917-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197092917A>C , CM000663.2:g.197092917A>C	GRCh38
NC_000001.10:g.197062047A>C , CM000663.1:g.197062047A>C	GRCh37
NC_000001.9:g.195328670A>C	NCBI36
NG_015867.1:g.58778T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2581+135T>G
ENST00000367409.9:c.9294+135T>G MANE Select	ENSP00000356379.4:n.9294+135T>G
ENST00000680265.1:c.9516+135T>G	ENSP00000505384.1:n.9516+135T>G
ENST00000680710.1:c.9294+135T>G	ENSP00000506676.1:n.9294+135T>G
ENST00000294732.11:c.4539+135T>G	ENSP00000294732.7:n.4539+135T>G
ENST00000367408.5:c.2289+135T>G	ENSP00000356378.1:n.2289+135T>G
ENST00000367409.8:c.9294+135T>G	ENSP00000356379.4:n.9294+135T>G
ENST00000612785.1:c.3252+135T>G	ENSP00000479244.1:n.3252+135T>G
NM_001206846.1:c.4539+135T>G	NP_001193775.1:n.4539+135T>G
NM_018136.4:c.9294+135T>G	NP_060606.3:n.9294+135T>G
NM_018136.5:c.9294+135T>G MANE Select	NP_060606.3:n.9294+135T>G
NM_001206846.2:c.4539+135T>G	NP_001193775.1:n.4539+135T>G