Canonical Allele Identifier: CA2649660400

Gene: ASPM

Linked Data

• gnomAD v4: 1-197088157-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088157C>G , CM000663.2:g.197088157C>G	GRCh38
NC_000001.10:g.197057287C>G , CM000663.1:g.197057287C>G	GRCh37
NC_000001.9:g.195323910C>G	NCBI36
NG_015867.1:g.63538G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3448+99G>C
ENST00000367409.9:c.10161+99G>C MANE Select	ENSP00000356379.4:n.10161+99G>C
ENST00000680265.1:c.10383+99G>C	ENSP00000505384.1:n.10383+99G>C
ENST00000680710.1:c.10137+99G>C	ENSP00000506676.1:n.10137+99G>C
ENST00000294732.11:c.5406+99G>C	ENSP00000294732.7:n.5406+99G>C
ENST00000367408.5:c.3156+99G>C	ENSP00000356378.1:n.3156+99G>C
ENST00000367409.8:c.10161+99G>C	ENSP00000356379.4:n.10161+99G>C
NM_001206846.1:c.5406+99G>C	NP_001193775.1:n.5406+99G>C
NM_018136.4:c.10161+99G>C	NP_060606.3:n.10161+99G>C
NM_018136.5:c.10161+99G>C MANE Select	NP_060606.3:n.10161+99G>C
NM_001206846.2:c.5406+99G>C	NP_001193775.1:n.5406+99G>C