Canonical Allele Identifier: CA344003251

Gene: ASPM

Linked Data

• dbSNP Id: rs1656765368
• gnomAD v4: 1-197090980-T-G
• MyVariant Identifiers: chr1:g.197060110T>G (hg19) ; chr1:g.197090980T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090980T>G , CM000663.2:g.197090980T>G	GRCh38
NC_000001.10:g.197060110T>G , CM000663.1:g.197060110T>G	GRCh37
NC_000001.9:g.195326733T>G	NCBI36
NG_015867.1:g.60715A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2793A>C
ENST00000367409.9:c.9506A>C MANE Select	ENSP00000356379.4:p.Lys3169Thr
ENST00000680265.1:c.9728A>C	ENSP00000505384.1:p.Lys3243Thr
ENST00000680710.1:c.9482A>C	ENSP00000506676.1:p.Lys3161Thr
ENST00000294732.11:c.4751A>C	ENSP00000294732.7:p.Lys1584Thr
ENST00000367408.5:c.2501A>C	ENSP00000356378.1:p.Lys834Thr
ENST00000367409.8:c.9506A>C	ENSP00000356379.4:p.Lys3169Thr
ENST00000612785.1:c.3464A>C	ENSP00000479244.1:p.Lys1155Thr
NM_001206846.1:c.4751A>C	NP_001193775.1:p.Lys1584Thr
NM_018136.4:c.9506A>C	NP_060606.3:p.Lys3169Thr
NM_018136.5:c.9506A>C MANE Select	NP_060606.3:p.Lys3169Thr
NM_001206846.2:c.4751A>C	NP_001193775.1:p.Lys1584Thr