Canonical Allele Identifier: CA344003501

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060137A>C (hg19) ; chr1:g.197091007A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091007A>C , CM000663.2:g.197091007A>C	GRCh38
NC_000001.10:g.197060137A>C , CM000663.1:g.197060137A>C	GRCh37
NC_000001.9:g.195326760A>C	NCBI36
NG_015867.1:g.60688T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2766T>G
ENST00000367409.9:c.9479T>G MANE Select	ENSP00000356379.4:p.Phe3160Cys
ENST00000680265.1:c.9701T>G	ENSP00000505384.1:p.Phe3234Cys
ENST00000680710.1:c.9455T>G	ENSP00000506676.1:p.Phe3152Cys
ENST00000294732.11:c.4724T>G	ENSP00000294732.7:p.Phe1575Cys
ENST00000367408.5:c.2474T>G	ENSP00000356378.1:p.Phe825Cys
ENST00000367409.8:c.9479T>G	ENSP00000356379.4:p.Phe3160Cys
ENST00000612785.1:c.3437T>G	ENSP00000479244.1:p.Phe1146Cys
NM_001206846.1:c.4724T>G	NP_001193775.1:p.Phe1575Cys
NM_018136.4:c.9479T>G	NP_060606.3:p.Phe3160Cys
NM_018136.5:c.9479T>G MANE Select	NP_060606.3:p.Phe3160Cys
NM_001206846.2:c.4724T>G	NP_001193775.1:p.Phe1575Cys