Canonical Allele Identifier: CA422672241

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057548A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088418A>G , CM000663.2:g.197088418A>G	GRCh38
NC_000001.10:g.197057548A>G , CM000663.1:g.197057548A>G	GRCh37
NC_000001.9:g.195324171A>G	NCBI36
NG_015867.1:g.63277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3286T>C
ENST00000367409.9:c.9999T>C MANE Select	ENSP00000356379.4:p.Thr3333=
ENST00000680265.1:c.10221T>C	ENSP00000505384.1:p.Thr3407=
ENST00000680710.1:c.9975T>C	ENSP00000506676.1:p.Thr3325=
ENST00000294732.11:c.5244T>C	ENSP00000294732.7:p.Thr1748=
ENST00000367408.5:c.2994T>C	ENSP00000356378.1:p.Thr998=
ENST00000367409.8:c.9999T>C	ENSP00000356379.4:p.Thr3333=
ENST00000612785.1:c.3957T>C	ENSP00000479244.1:p.Thr1319=
NM_001206846.1:c.5244T>C	NP_001193775.1:p.Thr1748=
NM_018136.4:c.9999T>C	NP_060606.3:p.Thr3333=
NM_018136.5:c.9999T>C MANE Select	NP_060606.3:p.Thr3333=
NM_001206846.2:c.5244T>C	NP_001193775.1:p.Thr1748=