Canonical Allele Identifier: CA344003113

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090971-T-C
• MyVariant Identifiers: chr1:g.197060101T>C (hg19) ; chr1:g.197090971T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090971T>C , CM000663.2:g.197090971T>C	GRCh38
NC_000001.10:g.197060101T>C , CM000663.1:g.197060101T>C	GRCh37
NC_000001.9:g.195326724T>C	NCBI36
NG_015867.1:g.60724A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2802A>G
ENST00000367409.9:c.9515A>G MANE Select	ENSP00000356379.4:p.His3172Arg
ENST00000680265.1:c.9737A>G	ENSP00000505384.1:p.His3246Arg
ENST00000680710.1:c.9491A>G	ENSP00000506676.1:p.His3164Arg
ENST00000294732.11:c.4760A>G	ENSP00000294732.7:p.His1587Arg
ENST00000367408.5:c.2510A>G	ENSP00000356378.1:p.His837Arg
ENST00000367409.8:c.9515A>G	ENSP00000356379.4:p.His3172Arg
ENST00000612785.1:c.3473A>G	ENSP00000479244.1:p.His1158Arg
NM_001206846.1:c.4760A>G	NP_001193775.1:p.His1587Arg
NM_018136.4:c.9515A>G	NP_060606.3:p.His3172Arg
NM_018136.5:c.9515A>G MANE Select	NP_060606.3:p.His3172Arg
NM_001206846.2:c.4760A>G	NP_001193775.1:p.His1587Arg