Canonical Allele Identifier: CA344003621

Gene: ASPM

Linked Data

• dbSNP Id: rs1384019669
• gnomAD v2: 1-197060146-T-G
• gnomAD v4: 1-197091016-T-G
• MyVariant Identifiers: chr1:g.197060146T>G (hg19) ; chr1:g.197091016T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091016T>G , CM000663.2:g.197091016T>G	GRCh38
NC_000001.10:g.197060146T>G , CM000663.1:g.197060146T>G	GRCh37
NC_000001.9:g.195326769T>G	NCBI36
NG_015867.1:g.60679A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2757A>C
ENST00000367409.9:c.9470A>C MANE Select	ENSP00000356379.4:p.Glu3157Ala
ENST00000680265.1:c.9692A>C	ENSP00000505384.1:p.Glu3231Ala
ENST00000680710.1:c.9446A>C	ENSP00000506676.1:p.Glu3149Ala
ENST00000294732.11:c.4715A>C	ENSP00000294732.7:p.Glu1572Ala
ENST00000367408.5:c.2465A>C	ENSP00000356378.1:p.Glu822Ala
ENST00000367409.8:c.9470A>C	ENSP00000356379.4:p.Glu3157Ala
ENST00000612785.1:c.3428A>C	ENSP00000479244.1:p.Glu1143Ala
NM_001206846.1:c.4715A>C	NP_001193775.1:p.Glu1572Ala
NM_018136.4:c.9470A>C	NP_060606.3:p.Glu3157Ala
NM_018136.5:c.9470A>C MANE Select	NP_060606.3:p.Glu3157Ala
NM_001206846.2:c.4715A>C	NP_001193775.1:p.Glu1572Ala