Canonical Allele Identifier: CA344006868

Gene: ASPM

Linked Data

• gnomAD v4: 1-197093107-T-G
• MyVariant Identifiers: chr1:g.197062237T>G (hg19) ; chr1:g.197093107T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093107T>G , CM000663.2:g.197093107T>G	GRCh38
NC_000001.10:g.197062237T>G , CM000663.1:g.197062237T>G	GRCh37
NC_000001.9:g.195328860T>G	NCBI36
NG_015867.1:g.58588A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2526A>C
ENST00000367409.9:c.9239A>C MANE Select	ENSP00000356379.4:p.Lys3080Thr
ENST00000680265.1:c.9461A>C	ENSP00000505384.1:p.Lys3154Thr
ENST00000680710.1:c.9239A>C	ENSP00000506676.1:p.Lys3080Thr
ENST00000294732.11:c.4484A>C	ENSP00000294732.7:p.Lys1495Thr
ENST00000367408.5:c.2234A>C	ENSP00000356378.1:p.Lys745Thr
ENST00000367409.8:c.9239A>C	ENSP00000356379.4:p.Lys3080Thr
ENST00000612785.1:c.3197A>C	ENSP00000479244.1:p.Lys1066Thr
NM_001206846.1:c.4484A>C	NP_001193775.1:p.Lys1495Thr
NM_018136.4:c.9239A>C	NP_060606.3:p.Lys3080Thr
NM_018136.5:c.9239A>C MANE Select	NP_060606.3:p.Lys3080Thr
NM_001206846.2:c.4484A>C	NP_001193775.1:p.Lys1495Thr