Canonical Allele Identifier: CA208398

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197084166A>G , CM000663.2:g.197084166A>G	GRCh38
NC_000001.10:g.197053296A>G , CM000663.1:g.197053296A>G	GRCh37
NC_000001.9:g.195319919A>G	NCBI36
NG_015867.1:g.67529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3879T>C
ENST00000367409.9:c.*158T>C MANE Select	ENSP00000356379.4:n.*158T>C
ENST00000680265.1:c.*158T>C	ENSP00000505384.1:n.*158T>C
ENST00000294732.11:c.*158T>C	ENSP00000294732.7:n.*158T>C
ENST00000367408.5:c.*158T>C	ENSP00000356378.1:n.*158T>C
ENST00000367409.8:c.*158T>C	ENSP00000356379.4:n.*158T>C
NM_001206846.1:c.*158T>C	NP_001193775.1:n.*158T>C
NM_018136.4:c.*158T>C	NP_060606.3:n.*158T>C
NM_018136.5:c.*158T>C MANE Select	NP_060606.3:n.*158T>C
NM_001206846.2:c.*158T>C	NP_001193775.1:n.*158T>C