Canonical Allele Identifier: CA344007691

Gene: ASPM

Linked Data

• gnomAD v4: 1-197093230-T-C
• MyVariant Identifiers: chr1:g.197062360T>C (hg19) ; chr1:g.197093230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093230T>C , CM000663.2:g.197093230T>C	GRCh38
NC_000001.10:g.197062360T>C , CM000663.1:g.197062360T>C	GRCh37
NC_000001.9:g.195328983T>C	NCBI36
NG_015867.1:g.58465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2403A>G
ENST00000367409.9:c.9116A>G MANE Select	ENSP00000356379.4:p.His3039Arg
ENST00000680265.1:c.9338A>G	ENSP00000505384.1:p.His3113Arg
ENST00000680710.1:c.9116A>G	ENSP00000506676.1:p.His3039Arg
ENST00000294732.11:c.4361A>G	ENSP00000294732.7:p.His1454Arg
ENST00000367408.5:c.2111A>G	ENSP00000356378.1:p.His704Arg
ENST00000367409.8:c.9116A>G	ENSP00000356379.4:p.His3039Arg
ENST00000612785.1:c.3074A>G	ENSP00000479244.1:p.His1025Arg
NM_001206846.1:c.4361A>G	NP_001193775.1:p.His1454Arg
NM_018136.4:c.9116A>G	NP_060606.3:p.His3039Arg
NM_018136.5:c.9116A>G MANE Select	NP_060606.3:p.His3039Arg
NM_001206846.2:c.4361A>G	NP_001193775.1:p.His1454Arg