Canonical Allele Identifier: CA344001684

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059362G>A (hg19) ; chr1:g.197090232G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090232G>A , CM000663.2:g.197090232G>A	GRCh38
NC_000001.10:g.197059362G>A , CM000663.1:g.197059362G>A	GRCh37
NC_000001.9:g.195325985G>A	NCBI36
NG_015867.1:g.61463C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3080C>T
ENST00000367409.9:c.9793C>T MANE Select	ENSP00000356379.4:p.His3265Tyr
ENST00000680265.1:c.10015C>T	ENSP00000505384.1:p.His3339Tyr
ENST00000680710.1:c.9769C>T	ENSP00000506676.1:p.His3257Tyr
ENST00000294732.11:c.5038C>T	ENSP00000294732.7:p.His1680Tyr
ENST00000367408.5:c.2788C>T	ENSP00000356378.1:p.His930Tyr
ENST00000367409.8:c.9793C>T	ENSP00000356379.4:p.His3265Tyr
ENST00000612785.1:c.3751C>T	ENSP00000479244.1:p.His1251Tyr
NM_001206846.1:c.5038C>T	NP_001193775.1:p.His1680Tyr
NM_018136.4:c.9793C>T	NP_060606.3:p.His3265Tyr
NM_018136.5:c.9793C>T MANE Select	NP_060606.3:p.His3265Tyr
NM_001206846.2:c.5038C>T	NP_001193775.1:p.His1680Tyr