Canonical Allele Identifier: CA344007313

Gene: ASPM

Linked Data

• COSMIC: COSM1245574
• MyVariant Identifiers: chr1:g.197062312G>T (hg19) ; chr1:g.197093182G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093182G>T , CM000663.2:g.197093182G>T	GRCh38
NC_000001.10:g.197062312G>T , CM000663.1:g.197062312G>T	GRCh37
NC_000001.9:g.195328935G>T	NCBI36
NG_015867.1:g.58513C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2451C>A
ENST00000367409.9:c.9164C>A MANE Select	ENSP00000356379.4:p.Ala3055Asp
ENST00000680265.1:c.9386C>A	ENSP00000505384.1:p.Ala3129Asp
ENST00000680710.1:c.9164C>A	ENSP00000506676.1:p.Ala3055Asp
ENST00000294732.11:c.4409C>A	ENSP00000294732.7:p.Ala1470Asp
ENST00000367408.5:c.2159C>A	ENSP00000356378.1:p.Ala720Asp
ENST00000367409.8:c.9164C>A	ENSP00000356379.4:p.Ala3055Asp
ENST00000612785.1:c.3122C>A	ENSP00000479244.1:p.Ala1041Asp
NM_001206846.1:c.4409C>A	NP_001193775.1:p.Ala1470Asp
NM_018136.4:c.9164C>A	NP_060606.3:p.Ala3055Asp
NM_018136.5:c.9164C>A MANE Select	NP_060606.3:p.Ala3055Asp
NM_001206846.2:c.4409C>A	NP_001193775.1:p.Ala1470Asp