Canonical Allele Identifier: CA1308829

Gene: ASPM

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090024G>T , CM000663.2:g.197090024G>T	GRCh38
NC_000001.10:g.197059154G>T , CM000663.1:g.197059154G>T	GRCh37
NC_000001.9:g.195325777G>T	NCBI36
NG_015867.1:g.61671C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3177C>A
ENST00000367409.9:c.9890C>A MANE Select	ENSP00000356379.4:p.Ser3297Tyr
ENST00000680265.1:c.10112C>A	ENSP00000505384.1:p.Ser3371Tyr
ENST00000680710.1:c.9866C>A	ENSP00000506676.1:p.Ser3289Tyr
ENST00000294732.11:c.5135C>A	ENSP00000294732.7:p.Ser1712Tyr
ENST00000367408.5:c.2885C>A	ENSP00000356378.1:p.Ser962Tyr
ENST00000367409.8:c.9890C>A	ENSP00000356379.4:p.Ser3297Tyr
ENST00000612785.1:c.3848C>A	ENSP00000479244.1:p.Ser1283Tyr
NM_001206846.1:c.5135C>A	NP_001193775.1:p.Ser1712Tyr
NM_018136.4:c.9890C>A	NP_060606.3:p.Ser3297Tyr
NM_018136.5:c.9890C>A MANE Select	NP_060606.3:p.Ser3297Tyr
NM_001206846.2:c.5135C>A	NP_001193775.1:p.Ser1712Tyr