Canonical Allele Identifier: CA2571443156

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088190A>G , CM000663.2:g.197088190A>G	GRCh38
NC_000001.10:g.197057320A>G , CM000663.1:g.197057320A>G	GRCh37
NC_000001.9:g.195323943A>G	NCBI36
NG_015867.1:g.63505T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3448+66T>C
ENST00000367409.9:c.10161+66T>C MANE Select	ENSP00000356379.4:n.10161+66T>C
ENST00000680265.1:c.10383+66T>C	ENSP00000505384.1:n.10383+66T>C
ENST00000680710.1:c.10137+66T>C	ENSP00000506676.1:n.10137+66T>C
ENST00000294732.11:c.5406+66T>C	ENSP00000294732.7:n.5406+66T>C
ENST00000367408.5:c.3156+66T>C	ENSP00000356378.1:n.3156+66T>C
ENST00000367409.8:c.10161+66T>C	ENSP00000356379.4:n.10161+66T>C
NM_001206846.1:c.5406+66T>C	NP_001193775.1:n.5406+66T>C
NM_018136.4:c.10161+66T>C	NP_060606.3:n.10161+66T>C
NM_018136.5:c.10161+66T>C MANE Select	NP_060606.3:n.10161+66T>C
NM_001206846.2:c.5406+66T>C	NP_001193775.1:n.5406+66T>C