Canonical Allele Identifier: CA344001916

Gene: ASPM

Linked Data

• dbSNP Id: rs1422137830
• gnomAD v3: 1-197090340-T-G
• gnomAD v4: 1-197090340-T-G
• MyVariant Identifiers: chr1:g.197059470T>G (hg19) ; chr1:g.197090340T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090340T>G , CM000663.2:g.197090340T>G	GRCh38
NC_000001.10:g.197059470T>G , CM000663.1:g.197059470T>G	GRCh37
NC_000001.9:g.195326093T>G	NCBI36
NG_015867.1:g.61355A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2972A>C
ENST00000367409.9:c.9685A>C MANE Select	ENSP00000356379.4:p.Ile3229Leu
ENST00000680265.1:c.9907A>C	ENSP00000505384.1:p.Ile3303Leu
ENST00000680710.1:c.9661A>C	ENSP00000506676.1:p.Ile3221Leu
ENST00000294732.11:c.4930A>C	ENSP00000294732.7:p.Ile1644Leu
ENST00000367408.5:c.2680A>C	ENSP00000356378.1:p.Ile894Leu
ENST00000367409.8:c.9685A>C	ENSP00000356379.4:p.Ile3229Leu
ENST00000612785.1:c.3643A>C	ENSP00000479244.1:p.Ile1215Leu
NM_001206846.1:c.4930A>C	NP_001193775.1:p.Ile1644Leu
NM_018136.4:c.9685A>C	NP_060606.3:p.Ile3229Leu
NM_018136.5:c.9685A>C MANE Select	NP_060606.3:p.Ile3229Leu
NM_001206846.2:c.4930A>C	NP_001193775.1:p.Ile1644Leu