Canonical Allele Identifier: CA344028312

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197073411G>C (hg19) ; chr1:g.197104281G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104281G>C , CM000663.2:g.197104281G>C	GRCh38
NC_000001.10:g.197073411G>C , CM000663.1:g.197073411G>C	GRCh37
NC_000001.9:g.195340034G>C	NCBI36
NG_015867.1:g.47414C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8117C>G
ENST00000367409.9:c.4970C>G MANE Select	ENSP00000356379.4:p.Thr1657Arg
ENST00000680265.1:c.4970C>G	ENSP00000505384.1:p.Thr1657Arg
ENST00000680710.1:c.4970C>G	ENSP00000506676.1:p.Thr1657Arg
ENST00000294732.11:c.4066-8117C>G	ENSP00000294732.7:n.4066-8117C>G
ENST00000367408.5:c.1816-8117C>G	ENSP00000356378.1:n.1816-8117C>G
ENST00000367409.8:c.4970C>G	ENSP00000356379.4:p.Thr1657Arg
ENST00000612785.1:c.562-1634C>G	ENSP00000479244.1:n.562-1634C>G
NM_001206846.1:c.4066-8117C>G	NP_001193775.1:n.4066-8117C>G
NM_018136.4:c.4970C>G	NP_060606.3:p.Thr1657Arg
NM_018136.5:c.4970C>G MANE Select	NP_060606.3:p.Thr1657Arg
NM_001206846.2:c.4066-8117C>G	NP_001193775.1:n.4066-8117C>G