Canonical Allele Identifier: CA344003142

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090972-G-T
• MyVariant Identifiers: chr1:g.197060102G>T (hg19) ; chr1:g.197090972G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090972G>T , CM000663.2:g.197090972G>T	GRCh38
NC_000001.10:g.197060102G>T , CM000663.1:g.197060102G>T	GRCh37
NC_000001.9:g.195326725G>T	NCBI36
NG_015867.1:g.60723C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2801C>A
ENST00000367409.9:c.9514C>A MANE Select	ENSP00000356379.4:p.His3172Asn
ENST00000680265.1:c.9736C>A	ENSP00000505384.1:p.His3246Asn
ENST00000680710.1:c.9490C>A	ENSP00000506676.1:p.His3164Asn
ENST00000294732.11:c.4759C>A	ENSP00000294732.7:p.His1587Asn
ENST00000367408.5:c.2509C>A	ENSP00000356378.1:p.His837Asn
ENST00000367409.8:c.9514C>A	ENSP00000356379.4:p.His3172Asn
ENST00000612785.1:c.3472C>A	ENSP00000479244.1:p.His1158Asn
NM_001206846.1:c.4759C>A	NP_001193775.1:p.His1587Asn
NM_018136.4:c.9514C>A	NP_060606.3:p.His3172Asn
NM_018136.5:c.9514C>A MANE Select	NP_060606.3:p.His3172Asn
NM_001206846.2:c.4759C>A	NP_001193775.1:p.His1587Asn