Canonical Allele Identifier: CA1309017

Gene: ASPM

Linked Data

• dbSNP Id: rs373830955
• ExAC: 1:197062284 T / C
• gnomAD v2: 1-197062284-T-C
• gnomAD v3: 1-197093154-T-C
• gnomAD v4: 1-197093154-T-C
• MyVariant Identifiers: chr1:g.197062284T>C (hg19) ; chr1:g.197093154T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093154T>C , CM000663.2:g.197093154T>C	GRCh38
NC_000001.10:g.197062284T>C , CM000663.1:g.197062284T>C	GRCh37
NC_000001.9:g.195328907T>C	NCBI36
NG_015867.1:g.58541A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2479A>G
ENST00000367409.9:c.9192A>G MANE Select	ENSP00000356379.4:p.Arg3064=
ENST00000680265.1:c.9414A>G	ENSP00000505384.1:p.Arg3138=
ENST00000680710.1:c.9192A>G	ENSP00000506676.1:p.Arg3064=
ENST00000294732.11:c.4437A>G	ENSP00000294732.7:p.Arg1479=
ENST00000367408.5:c.2187A>G	ENSP00000356378.1:p.Arg729=
ENST00000367409.8:c.9192A>G	ENSP00000356379.4:p.Arg3064=
ENST00000612785.1:c.3150A>G	ENSP00000479244.1:p.Arg1050=
NM_001206846.1:c.4437A>G	NP_001193775.1:p.Arg1479=
NM_018136.4:c.9192A>G	NP_060606.3:p.Arg3064=
NM_018136.5:c.9192A>G MANE Select	NP_060606.3:p.Arg3064=
NM_001206846.2:c.4437A>G	NP_001193775.1:p.Arg1479=