Canonical Allele Identifier: CA1217923639

Gene: ASPM

Linked Data

• dbSNP Id: rs1656669977
• gnomAD v3: 1-197088475-T-A
• gnomAD v4: 1-197088475-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088475T>A , CM000663.2:g.197088475T>A	GRCh38
NC_000001.10:g.197057605T>A , CM000663.1:g.197057605T>A	GRCh37
NC_000001.9:g.195324228T>A	NCBI36
NG_015867.1:g.63220A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3272-43A>T
ENST00000367409.9:c.9985-43A>T MANE Select	ENSP00000356379.4:n.9985-43A>T
ENST00000680265.1:c.10207-43A>T	ENSP00000505384.1:n.10207-43A>T
ENST00000680710.1:c.9961-43A>T	ENSP00000506676.1:n.9961-43A>T
ENST00000294732.11:c.5230-43A>T	ENSP00000294732.7:n.5230-43A>T
ENST00000367408.5:c.2980-43A>T	ENSP00000356378.1:n.2980-43A>T
ENST00000367409.8:c.9985-43A>T	ENSP00000356379.4:n.9985-43A>T
ENST00000612785.1:c.3943-43A>T	ENSP00000479244.1:n.3943-43A>T
NM_001206846.1:c.5230-43A>T	NP_001193775.1:n.5230-43A>T
NM_018136.4:c.9985-43A>T	NP_060606.3:n.9985-43A>T
NM_018136.5:c.9985-43A>T MANE Select	NP_060606.3:n.9985-43A>T
NM_001206846.2:c.5230-43A>T	NP_001193775.1:n.5230-43A>T