Canonical Allele Identifier: CA2573130618

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1660948
• ClinVar RCV Id: RCV002190758
• dbSNP Id: rs2125089419
• gnomAD v4: 1-197093036-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093036A>G , CM000663.2:g.197093036A>G	GRCh38
NC_000001.10:g.197062166A>G , CM000663.1:g.197062166A>G	GRCh37
NC_000001.9:g.195328789A>G	NCBI36
NG_015867.1:g.58659T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2581+16T>C
ENST00000367409.9:c.9294+16T>C MANE Select	ENSP00000356379.4:n.9294+16T>C
ENST00000680265.1:c.9516+16T>C	ENSP00000505384.1:n.9516+16T>C
ENST00000680710.1:c.9294+16T>C	ENSP00000506676.1:n.9294+16T>C
ENST00000294732.11:c.4539+16T>C	ENSP00000294732.7:n.4539+16T>C
ENST00000367408.5:c.2289+16T>C	ENSP00000356378.1:n.2289+16T>C
ENST00000367409.8:c.9294+16T>C	ENSP00000356379.4:n.9294+16T>C
ENST00000612785.1:c.3252+16T>C	ENSP00000479244.1:n.3252+16T>C
NM_001206846.1:c.4539+16T>C	NP_001193775.1:n.4539+16T>C
NM_018136.4:c.9294+16T>C	NP_060606.3:n.9294+16T>C
NM_018136.5:c.9294+16T>C MANE Select	NP_060606.3:n.9294+16T>C
NM_001206846.2:c.4539+16T>C	NP_001193775.1:n.4539+16T>C