Canonical Allele Identifier: CA344026288

Gene: ASPM

Linked Data

• dbSNP Id: rs1571601335
• gnomAD v4: 1-197103686-C-A
• MyVariant Identifiers: chr1:g.197072816C>A (hg19) ; chr1:g.197103686C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103686C>A , CM000663.2:g.197103686C>A	GRCh38
NC_000001.10:g.197072816C>A , CM000663.1:g.197072816C>A	GRCh37
NC_000001.9:g.195339439C>A	NCBI36
NG_015867.1:g.48009G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7522G>T
ENST00000367409.9:c.5565G>T MANE Select	ENSP00000356379.4:p.Gln1855His
ENST00000680265.1:c.5565G>T	ENSP00000505384.1:p.Gln1855His
ENST00000680710.1:c.5565G>T	ENSP00000506676.1:p.Gln1855His
ENST00000294732.11:c.4066-7522G>T	ENSP00000294732.7:n.4066-7522G>T
ENST00000367408.5:c.1816-7522G>T	ENSP00000356378.1:n.1816-7522G>T
ENST00000367409.8:c.5565G>T	ENSP00000356379.4:p.Gln1855His
ENST00000612785.1:c.562-1039G>T	ENSP00000479244.1:n.562-1039G>T
NM_001206846.1:c.4066-7522G>T	NP_001193775.1:n.4066-7522G>T
NM_018136.4:c.5565G>T	NP_060606.3:p.Gln1855His
NM_018136.5:c.5565G>T MANE Select	NP_060606.3:p.Gln1855His
NM_001206846.2:c.4066-7522G>T	NP_001193775.1:n.4066-7522G>T