Canonical Allele Identifier: CA343998532

Gene: ASPM

Linked Data

• dbSNP Id: rs1193488480
• gnomAD v2: 1-197057513-A-G
• gnomAD v3: 1-197088383-A-G
• gnomAD v4: 1-197088383-A-G
• MyVariant Identifiers: chr1:g.197057513A>G (hg19) ; chr1:g.197088383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088383A>G , CM000663.2:g.197088383A>G	GRCh38
NC_000001.10:g.197057513A>G , CM000663.1:g.197057513A>G	GRCh37
NC_000001.9:g.195324136A>G	NCBI36
NG_015867.1:g.63312T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3321T>C
ENST00000367409.9:c.10034T>C MANE Select	ENSP00000356379.4:p.Ile3345Thr
ENST00000680265.1:c.10256T>C	ENSP00000505384.1:p.Ile3419Thr
ENST00000680710.1:c.10010T>C	ENSP00000506676.1:p.Ile3337Thr
ENST00000294732.11:c.5279T>C	ENSP00000294732.7:p.Ile1760Thr
ENST00000367408.5:c.3029T>C	ENSP00000356378.1:p.Ile1010Thr
ENST00000367409.8:c.10034T>C	ENSP00000356379.4:p.Ile3345Thr
ENST00000612785.1:c.3992T>C	ENSP00000479244.1:p.Ile1331Thr
NM_001206846.1:c.5279T>C	NP_001193775.1:p.Ile1760Thr
NM_018136.4:c.10034T>C	NP_060606.3:p.Ile3345Thr
NM_018136.5:c.10034T>C MANE Select	NP_060606.3:p.Ile3345Thr
NM_001206846.2:c.5279T>C	NP_001193775.1:p.Ile1760Thr