Canonical Allele Identifier: CA343997026

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057358T>C (hg19) ; chr1:g.197088228T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088228T>C , CM000663.2:g.197088228T>C	GRCh38
NC_000001.10:g.197057358T>C , CM000663.1:g.197057358T>C	GRCh37
NC_000001.9:g.195323981T>C	NCBI36
NG_015867.1:g.63467A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3448+28A>G
ENST00000367409.9:c.10161+28A>G MANE Select	ENSP00000356379.4:n.10161+28A>G
ENST00000680265.1:c.10383+28A>G	ENSP00000505384.1:n.10383+28A>G
ENST00000680710.1:c.10137+28A>G	ENSP00000506676.1:n.10137+28A>G
ENST00000294732.11:c.5406+28A>G	ENSP00000294732.7:n.5406+28A>G
ENST00000367408.5:c.3156+28A>G	ENSP00000356378.1:n.3156+28A>G
ENST00000367409.8:c.10161+28A>G	ENSP00000356379.4:n.10161+28A>G
ENST00000612785.1:c.4147A>G	ENSP00000479244.1:p.Lys1383Glu
NM_001206846.1:c.5406+28A>G	NP_001193775.1:n.5406+28A>G
NM_018136.4:c.10161+28A>G	NP_060606.3:n.10161+28A>G
NM_018136.5:c.10161+28A>G MANE Select	NP_060606.3:n.10161+28A>G
NM_001206846.2:c.5406+28A>G	NP_001193775.1:n.5406+28A>G