Canonical Allele Identifier: CA35862260

Gene: ASPM

Linked Data

• dbSNP Id: rs372634486
• gnomAD v4: 1-197091006-A-T
• MyVariant Identifiers: chr1:g.197060136A>T (hg19) ; chr1:g.197091006A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091006A>T , CM000663.2:g.197091006A>T	GRCh38
NC_000001.10:g.197060136A>T , CM000663.1:g.197060136A>T	GRCh37
NC_000001.9:g.195326759A>T	NCBI36
NG_015867.1:g.60689T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2767T>A
ENST00000367409.9:c.9480T>A MANE Select	ENSP00000356379.4:p.Phe3160Leu
ENST00000680265.1:c.9702T>A	ENSP00000505384.1:p.Phe3234Leu
ENST00000680710.1:c.9456T>A	ENSP00000506676.1:p.Phe3152Leu
ENST00000294732.11:c.4725T>A	ENSP00000294732.7:p.Phe1575Leu
ENST00000367408.5:c.2475T>A	ENSP00000356378.1:p.Phe825Leu
ENST00000367409.8:c.9480T>A	ENSP00000356379.4:p.Phe3160Leu
ENST00000612785.1:c.3438T>A	ENSP00000479244.1:p.Phe1146Leu
NM_001206846.1:c.4725T>A	NP_001193775.1:p.Phe1575Leu
NM_018136.4:c.9480T>A	NP_060606.3:p.Phe3160Leu
NM_018136.5:c.9480T>A MANE Select	NP_060606.3:p.Phe3160Leu
NM_001206846.2:c.4725T>A	NP_001193775.1:p.Phe1575Leu