Canonical Allele Identifier: CA343997247

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1388732
• ClinVar RCV Id: RCV001886815
• dbSNP Id: rs1388514465
• MyVariant Identifiers: chr1:g.197057391C>G (hg19) ; chr1:g.197088261C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088261C>G , CM000663.2:g.197088261C>G	GRCh38
NC_000001.10:g.197057391C>G , CM000663.1:g.197057391C>G	GRCh37
NC_000001.9:g.195324014C>G	NCBI36
NG_015867.1:g.63434G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3443G>C
ENST00000367409.9:c.10156G>C MANE Select	ENSP00000356379.4:p.Ala3386Pro
ENST00000680265.1:c.10378G>C	ENSP00000505384.1:p.Ala3460Pro
ENST00000680710.1:c.10132G>C	ENSP00000506676.1:p.Ala3378Pro
ENST00000294732.11:c.5401G>C	ENSP00000294732.7:p.Ala1801Pro
ENST00000367408.5:c.3151G>C	ENSP00000356378.1:p.Ala1051Pro
ENST00000367409.8:c.10156G>C	ENSP00000356379.4:p.Ala3386Pro
ENST00000612785.1:c.4114G>C	ENSP00000479244.1:p.Ala1372Pro
NM_001206846.1:c.5401G>C	NP_001193775.1:p.Ala1801Pro
NM_018136.4:c.10156G>C	NP_060606.3:p.Ala3386Pro
NM_018136.5:c.10156G>C MANE Select	NP_060606.3:p.Ala3386Pro
NM_001206846.2:c.5401G>C	NP_001193775.1:p.Ala1801Pro