Canonical Allele Identifier: CA344036470

Gene: ASPM

Linked Data

• dbSNP Id: rs1308889723
• gnomAD v2: 1-197087028-G-A
• gnomAD v4: 1-197117898-G-A
• MyVariant Identifiers: chr1:g.197087028G>A (hg19) ; chr1:g.197117898G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197117898G>A , CM000663.2:g.197117898G>A	GRCh38
NC_000001.10:g.197087028G>A , CM000663.1:g.197087028G>A	GRCh37
NC_000001.9:g.195353651G>A	NCBI36
NG_015867.1:g.33797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1998C>T
ENST00000367409.9:c.3956C>T MANE Select	ENSP00000356379.4:p.Ala1319Val
ENST00000680265.1:c.3956C>T	ENSP00000505384.1:p.Ala1319Val
ENST00000680710.1:c.3956C>T	ENSP00000506676.1:p.Ala1319Val
ENST00000681879.1:c.4004C>T	ENSP00000505363.1:n.4004C>T
ENST00000294732.11:c.3956C>T	ENSP00000294732.7:p.Ala1319Val
ENST00000367408.5:c.1706C>T	ENSP00000356378.1:p.Ala569Val
ENST00000367409.8:c.3956C>T	ENSP00000356379.4:p.Ala1319Val
ENST00000612785.1:c.562-15251C>T	ENSP00000479244.1:n.562-15251C>T
NM_001206846.1:c.3956C>T	NP_001193775.1:p.Ala1319Val
NM_018136.4:c.3956C>T	NP_060606.3:p.Ala1319Val
NM_018136.5:c.3956C>T MANE Select	NP_060606.3:p.Ala1319Val
NM_001206846.2:c.3956C>T	NP_001193775.1:p.Ala1319Val