Canonical Allele Identifier: CA1310649
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 585442
dbSNP Id: rs766146033

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