Canonical Allele Identifier: CA422805218

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059369T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090239T>A , CM000663.2:g.197090239T>A	GRCh38
NC_000001.10:g.197059369T>A , CM000663.1:g.197059369T>A	GRCh37
NC_000001.9:g.195325992T>A	NCBI36
NG_015867.1:g.61456A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3073A>T
ENST00000367409.9:c.9786A>T MANE Select	ENSP00000356379.4:p.Thr3262=
ENST00000680265.1:c.10008A>T	ENSP00000505384.1:p.Thr3336=
ENST00000680710.1:c.9762A>T	ENSP00000506676.1:p.Thr3254=
ENST00000294732.11:c.5031A>T	ENSP00000294732.7:p.Thr1677=
ENST00000367408.5:c.2781A>T	ENSP00000356378.1:p.Thr927=
ENST00000367409.8:c.9786A>T	ENSP00000356379.4:p.Thr3262=
ENST00000612785.1:c.3744A>T	ENSP00000479244.1:p.Thr1248=
NM_001206846.1:c.5031A>T	NP_001193775.1:p.Thr1677=
NM_018136.4:c.9786A>T	NP_060606.3:p.Thr3262=
NM_018136.5:c.9786A>T MANE Select	NP_060606.3:p.Thr3262=
NM_001206846.2:c.5031A>T	NP_001193775.1:p.Thr1677=