Canonical Allele Identifier: CA171273

Gene: ASPM

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093092A>G , CM000663.2:g.197093092A>G	GRCh38
NC_000001.10:g.197062222A>G , CM000663.1:g.197062222A>G	GRCh37
NC_000001.9:g.195328845A>G	NCBI36
NG_015867.1:g.58603T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2541T>C
ENST00000367409.9:c.9254T>C MANE Select	ENSP00000356379.4:p.Ile3085Thr
ENST00000680265.1:c.9476T>C	ENSP00000505384.1:p.Ile3159Thr
ENST00000680710.1:c.9254T>C	ENSP00000506676.1:p.Ile3085Thr
ENST00000294732.11:c.4499T>C	ENSP00000294732.7:p.Ile1500Thr
ENST00000367408.5:c.2249T>C	ENSP00000356378.1:p.Ile750Thr
ENST00000367409.8:c.9254T>C	ENSP00000356379.4:p.Ile3085Thr
ENST00000612785.1:c.3212T>C	ENSP00000479244.1:p.Ile1071Thr
NM_001206846.1:c.4499T>C	NP_001193775.1:p.Ile1500Thr
NM_018136.4:c.9254T>C	NP_060606.3:p.Ile3085Thr
NM_018136.5:c.9254T>C MANE Select	NP_060606.3:p.Ile3085Thr
NM_001206846.2:c.4499T>C	NP_001193775.1:p.Ile1500Thr