Canonical Allele Identifier: CA208920
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 210348
dbSNP Id: rs199813531

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142412C>G , CM000663.2:g.197142412C>G GRCh38
NC_000001.10:g.197111542C>G , CM000663.1:g.197111542C>G GRCh37
NC_000001.9:g.195378165C>G NCBI36
NG_015867.1:g.9283G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.1840G>C MANE Select ENSP00000356379.4:p.Val614Leu
ENST00000679766.1:n.2057G>C
ENST00000680265.1:c.1840G>C ENSP00000505384.1:p.Val614Leu
ENST00000680710.1:c.1840G>C ENSP00000506676.1:p.Val614Leu
ENST00000681879.1:c.1840G>C ENSP00000505363.1:p.Val614Leu
ENST00000294732.11:c.1840G>C ENSP00000294732.7:p.Val614Leu
ENST00000367409.8:c.1840G>C ENSP00000356379.4:p.Val614Leu
ENST00000612785.1:c.561+1279G>C ENSP00000479244.1:n.561+1279G>C
NM_001206846.1:c.1840G>C NP_001193775.1:p.Val614Leu
NM_018136.4:c.1840G>C NP_060606.3:p.Val614Leu
NM_018136.5:c.1840G>C MANE Select NP_060606.3:p.Val614Leu
NM_001206846.2:c.1840G>C NP_001193775.1:p.Val614Leu