Canonical Allele Identifier: CA344003017

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060090C>A (hg19) ; chr1:g.197090960C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090960C>A , CM000663.2:g.197090960C>A	GRCh38
NC_000001.10:g.197060090C>A , CM000663.1:g.197060090C>A	GRCh37
NC_000001.9:g.195326713C>A	NCBI36
NG_015867.1:g.60735G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2813G>T
ENST00000367409.9:c.9526G>T MANE Select	ENSP00000356379.4:p.Glu3176Ter
ENST00000680265.1:c.9748G>T	ENSP00000505384.1:p.Glu3250Ter
ENST00000680710.1:c.9502G>T	ENSP00000506676.1:p.Glu3168Ter
ENST00000294732.11:c.4771G>T	ENSP00000294732.7:p.Glu1591Ter
ENST00000367408.5:c.2521G>T	ENSP00000356378.1:p.Glu841Ter
ENST00000367409.8:c.9526G>T	ENSP00000356379.4:p.Glu3176Ter
ENST00000612785.1:c.3484G>T	ENSP00000479244.1:p.Glu1162Ter
NM_001206846.1:c.4771G>T	NP_001193775.1:p.Glu1591Ter
NM_018136.4:c.9526G>T	NP_060606.3:p.Glu3176Ter
NM_018136.5:c.9526G>T MANE Select	NP_060606.3:p.Glu3176Ter
NM_001206846.2:c.4771G>T	NP_001193775.1:p.Glu1591Ter