Canonical Allele Identifier: CA344023124

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197072039T>G (hg19) ; chr1:g.197102909T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102909T>G , CM000663.2:g.197102909T>G	GRCh38
NC_000001.10:g.197072039T>G , CM000663.1:g.197072039T>G	GRCh37
NC_000001.9:g.195338662T>G	NCBI36
NG_015867.1:g.48786A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6745A>C
ENST00000367409.9:c.6342A>C MANE Select	ENSP00000356379.4:p.Gln2114His
ENST00000680265.1:c.6342A>C	ENSP00000505384.1:p.Gln2114His
ENST00000680710.1:c.6342A>C	ENSP00000506676.1:p.Gln2114His
ENST00000294732.11:c.4066-6745A>C	ENSP00000294732.7:n.4066-6745A>C
ENST00000367408.5:c.1816-6745A>C	ENSP00000356378.1:n.1816-6745A>C
ENST00000367409.8:c.6342A>C	ENSP00000356379.4:p.Gln2114His
ENST00000612785.1:c.562-262A>C	ENSP00000479244.1:n.562-262A>C
NM_001206846.1:c.4066-6745A>C	NP_001193775.1:n.4066-6745A>C
NM_018136.4:c.6342A>C	NP_060606.3:p.Gln2114His
NM_018136.5:c.6342A>C MANE Select	NP_060606.3:p.Gln2114His
NM_001206846.2:c.4066-6745A>C	NP_001193775.1:n.4066-6745A>C