Canonical Allele Identifier: CA35864147

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197094127A>G , CM000663.2:g.197094127A>G	GRCh38
NC_000001.10:g.197063257A>G , CM000663.1:g.197063257A>G	GRCh37
NC_000001.9:g.195329880A>G	NCBI36
NG_015867.1:g.57568T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.9041T>C MANE Select	NP_060606.3:p.Ile3014Thr
ENST00000367409.9:c.9041T>C MANE Select	ENSP00000356379.4:p.Ile3014Thr
NM_001206846.1:c.4286T>C	NP_001193775.1:p.Ile1429Thr
NM_001206846.2:c.4286T>C	NP_001193775.1:p.Ile1429Thr
NM_018136.4:c.9041T>C	NP_060606.3:p.Ile3014Thr
ENST00000294732.11:c.4286T>C	ENSP00000294732.7:p.Ile1429Thr
ENST00000367408.5:c.2036T>C	ENSP00000356378.1:p.Ile679Thr
ENST00000367408.6:n.2328T>C
ENST00000367409.8:c.9041T>C	ENSP00000356379.4:p.Ile3014Thr
ENST00000612785.1:c.2999T>C	ENSP00000479244.1:p.Ile1000Thr
ENST00000680265.1:c.9263T>C	ENSP00000505384.1:p.Ile3088Thr
ENST00000680710.1:c.9041T>C	ENSP00000506676.1:p.Ile3014Thr