Canonical Allele Identifier: CA1310649

Gene: ASPM

Linked Data

• ClinVar Variation Id: 585442
• ClinVar RCV Id: RCV003453511
• dbSNP Id: rs766146033
• ExAC: 1:197111580 C / A
• gnomAD v2: 1-197111580-C-A
• gnomAD v3: 1-197142450-C-A
• gnomAD v4: 1-197142450-C-A
• MyVariant Identifiers: chr1:g.197111580C>A (hg19) ; chr1:g.197142450C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142450C>A , CM000663.2:g.197142450C>A	GRCh38
NC_000001.10:g.197111580C>A , CM000663.1:g.197111580C>A	GRCh37
NC_000001.9:g.195378203C>A	NCBI36
NG_015867.1:g.9245G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1802G>T MANE Select	ENSP00000356379.4:p.Arg601Ile
ENST00000679766.1:n.2019G>T
ENST00000680265.1:c.1802G>T	ENSP00000505384.1:p.Arg601Ile
ENST00000680710.1:c.1802G>T	ENSP00000506676.1:p.Arg601Ile
ENST00000681879.1:c.1802G>T	ENSP00000505363.1:p.Arg601Ile
ENST00000294732.11:c.1802G>T	ENSP00000294732.7:p.Arg601Ile
ENST00000367409.8:c.1802G>T	ENSP00000356379.4:p.Arg601Ile
ENST00000612785.1:c.561+1241G>T	ENSP00000479244.1:n.561+1241G>T
NM_001206846.1:c.1802G>T	NP_001193775.1:p.Arg601Ile
NM_018136.4:c.1802G>T	NP_060606.3:p.Arg601Ile
NM_018136.5:c.1802G>T MANE Select	NP_060606.3:p.Arg601Ile
NM_001206846.2:c.1802G>T	NP_001193775.1:p.Arg601Ile