Canonical Allele Identifier: CA344007362

Gene: ASPM

Linked Data

• dbSNP Id: rs1656843595
• MyVariant Identifiers: chr1:g.197062321T>C (hg19) ; chr1:g.197093191T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093191T>C , CM000663.2:g.197093191T>C	GRCh38
NC_000001.10:g.197062321T>C , CM000663.1:g.197062321T>C	GRCh37
NC_000001.9:g.195328944T>C	NCBI36
NG_015867.1:g.58504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2442A>G
ENST00000367409.9:c.9155A>G MANE Select	ENSP00000356379.4:p.Gln3052Arg
ENST00000680265.1:c.9377A>G	ENSP00000505384.1:p.Gln3126Arg
ENST00000680710.1:c.9155A>G	ENSP00000506676.1:p.Gln3052Arg
ENST00000294732.11:c.4400A>G	ENSP00000294732.7:p.Gln1467Arg
ENST00000367408.5:c.2150A>G	ENSP00000356378.1:p.Gln717Arg
ENST00000367409.8:c.9155A>G	ENSP00000356379.4:p.Gln3052Arg
ENST00000612785.1:c.3113A>G	ENSP00000479244.1:p.Gln1038Arg
NM_001206846.1:c.4400A>G	NP_001193775.1:p.Gln1467Arg
NM_018136.4:c.9155A>G	NP_060606.3:p.Gln3052Arg
NM_018136.5:c.9155A>G MANE Select	NP_060606.3:p.Gln3052Arg
NM_001206846.2:c.4400A>G	NP_001193775.1:p.Gln1467Arg