Canonical Allele Identifier: CA344007393

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197062325G>C (hg19) ; chr1:g.197093195G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093195G>C , CM000663.2:g.197093195G>C	GRCh38
NC_000001.10:g.197062325G>C , CM000663.1:g.197062325G>C	GRCh37
NC_000001.9:g.195328948G>C	NCBI36
NG_015867.1:g.58500C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2438C>G
ENST00000367409.9:c.9151C>G MANE Select	ENSP00000356379.4:p.Arg3051Gly
ENST00000680265.1:c.9373C>G	ENSP00000505384.1:p.Arg3125Gly
ENST00000680710.1:c.9151C>G	ENSP00000506676.1:p.Arg3051Gly
ENST00000294732.11:c.4396C>G	ENSP00000294732.7:p.Arg1466Gly
ENST00000367408.5:c.2146C>G	ENSP00000356378.1:p.Arg716Gly
ENST00000367409.8:c.9151C>G	ENSP00000356379.4:p.Arg3051Gly
ENST00000612785.1:c.3109C>G	ENSP00000479244.1:p.Arg1037Gly
NM_001206846.1:c.4396C>G	NP_001193775.1:p.Arg1466Gly
NM_018136.4:c.9151C>G	NP_060606.3:p.Arg3051Gly
NM_018136.5:c.9151C>G MANE Select	NP_060606.3:p.Arg3051Gly
NM_001206846.2:c.4396C>G	NP_001193775.1:p.Arg1466Gly