Canonical Allele Identifier: CA1309427

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101951T>C , CM000663.2:g.197101951T>C	GRCh38
NC_000001.10:g.197071081T>C , CM000663.1:g.197071081T>C	GRCh37
NC_000001.9:g.195337704T>C	NCBI36
NG_015867.1:g.49744A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.7300A>G MANE Select	NP_060606.3:p.Thr2434Ala
ENST00000367409.9:c.7300A>G MANE Select	ENSP00000356379.4:p.Thr2434Ala
NM_001206846.1:c.4066-5787A>G	NP_001193775.1:n.4066-5787A>G
NM_001206846.2:c.4066-5787A>G	NP_001193775.1:n.4066-5787A>G
NM_018136.4:c.7300A>G	NP_060606.3:p.Thr2434Ala
ENST00000294732.11:c.4066-5787A>G	ENSP00000294732.7:n.4066-5787A>G
ENST00000367408.5:c.1816-5787A>G	ENSP00000356378.1:n.1816-5787A>G
ENST00000367408.6:n.2108-5787A>G
ENST00000367409.8:c.7300A>G	ENSP00000356379.4:p.Thr2434Ala
ENST00000612785.1:c.1258A>G	ENSP00000479244.1:p.Thr420Ala
ENST00000680265.1:c.7300A>G	ENSP00000505384.1:p.Thr2434Ala
ENST00000680710.1:c.7300A>G	ENSP00000506676.1:p.Thr2434Ala