Canonical Allele Identifier: CA344039343

Gene: ASPM

Linked Data

• dbSNP Id: rs1253947559
• gnomAD v3: 1-197122206-C-T
• gnomAD v4: 1-197122206-C-T
• MyVariant Identifiers: chr1:g.197091336C>T (hg19) ; chr1:g.197122206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122206C>T , CM000663.2:g.197122206C>T	GRCh38
NC_000001.10:g.197091336C>T , CM000663.1:g.197091336C>T	GRCh37
NC_000001.9:g.195357959C>T	NCBI36
NG_015867.1:g.29489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1736G>A
ENST00000367409.9:c.3694G>A MANE Select	ENSP00000356379.4:p.Ala1232Thr
ENST00000680112.1:n.1750G>A
ENST00000680265.1:c.3694G>A	ENSP00000505384.1:p.Ala1232Thr
ENST00000680710.1:c.3694G>A	ENSP00000506676.1:p.Ala1232Thr
ENST00000681879.1:c.3694G>A	ENSP00000505363.1:p.Ala1232Thr
ENST00000294732.11:c.3694G>A	ENSP00000294732.7:p.Ala1232Thr
ENST00000367408.5:c.1444G>A	ENSP00000356378.1:p.Ala482Thr
ENST00000367409.8:c.3694G>A	ENSP00000356379.4:p.Ala1232Thr
ENST00000612785.1:c.562-19559G>A	ENSP00000479244.1:n.562-19559G>A
NM_001206846.1:c.3694G>A	NP_001193775.1:p.Ala1232Thr
NM_018136.4:c.3694G>A	NP_060606.3:p.Ala1232Thr
NM_018136.5:c.3694G>A MANE Select	NP_060606.3:p.Ala1232Thr
NM_001206846.2:c.3694G>A	NP_001193775.1:p.Ala1232Thr