Canonical Allele Identifier: CA1308880

Gene: ASPM

Linked Data

• dbSNP Id: rs755101149
• ExAC: 1:197059461 T / C
• gnomAD v2: 1-197059461-T-C
• gnomAD v4: 1-197090331-T-C
• MyVariant Identifiers: chr1:g.197059461T>C (hg19) ; chr1:g.197090331T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090331T>C , CM000663.2:g.197090331T>C	GRCh38
NC_000001.10:g.197059461T>C , CM000663.1:g.197059461T>C	GRCh37
NC_000001.9:g.195326084T>C	NCBI36
NG_015867.1:g.61364A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2981A>G
ENST00000367409.9:c.9694A>G MANE Select	ENSP00000356379.4:p.Ile3232Val
ENST00000680265.1:c.9916A>G	ENSP00000505384.1:p.Ile3306Val
ENST00000680710.1:c.9670A>G	ENSP00000506676.1:p.Ile3224Val
ENST00000294732.11:c.4939A>G	ENSP00000294732.7:p.Ile1647Val
ENST00000367408.5:c.2689A>G	ENSP00000356378.1:p.Ile897Val
ENST00000367409.8:c.9694A>G	ENSP00000356379.4:p.Ile3232Val
ENST00000612785.1:c.3652A>G	ENSP00000479244.1:p.Ile1218Val
NM_001206846.1:c.4939A>G	NP_001193775.1:p.Ile1647Val
NM_018136.4:c.9694A>G	NP_060606.3:p.Ile3232Val
NM_018136.5:c.9694A>G MANE Select	NP_060606.3:p.Ile3232Val
NM_001206846.2:c.4939A>G	NP_001193775.1:p.Ile1647Val