Canonical Allele Identifier: CA1310632

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2439259
• ClinVar RCV Id: RCV003141594
• dbSNP Id: rs778523464
• ExAC: 1:197111503 G / A
• gnomAD v2: 1-197111503-G-A
• gnomAD v3: 1-197142373-G-A
• gnomAD v4: 1-197142373-G-A
• MyVariant Identifiers: chr1:g.197111503G>A (hg19) ; chr1:g.197142373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142373G>A , CM000663.2:g.197142373G>A	GRCh38
NC_000001.10:g.197111503G>A , CM000663.1:g.197111503G>A	GRCh37
NC_000001.9:g.195378126G>A	NCBI36
NG_015867.1:g.9322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1879C>T MANE Select	ENSP00000356379.4:p.Arg627Cys
ENST00000679766.1:n.2096C>T
ENST00000680265.1:c.1879C>T	ENSP00000505384.1:p.Arg627Cys
ENST00000680710.1:c.1879C>T	ENSP00000506676.1:p.Arg627Cys
ENST00000681879.1:c.1879C>T	ENSP00000505363.1:p.Arg627Cys
ENST00000294732.11:c.1879C>T	ENSP00000294732.7:p.Arg627Cys
ENST00000367409.8:c.1879C>T	ENSP00000356379.4:p.Arg627Cys
ENST00000612785.1:c.561+1318C>T	ENSP00000479244.1:n.561+1318C>T
NM_001206846.1:c.1879C>T	NP_001193775.1:p.Arg627Cys
NM_018136.4:c.1879C>T	NP_060606.3:p.Arg627Cys
NM_018136.5:c.1879C>T MANE Select	NP_060606.3:p.Arg627Cys
NM_001206846.2:c.1879C>T	NP_001193775.1:p.Arg627Cys