Canonical Allele Identifier: CA344002952

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060085A>C (hg19) ; chr1:g.197090955A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090955A>C , CM000663.2:g.197090955A>C	GRCh38
NC_000001.10:g.197060085A>C , CM000663.1:g.197060085A>C	GRCh37
NC_000001.9:g.195326708A>C	NCBI36
NG_015867.1:g.60740T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2818T>G
ENST00000367409.9:c.9531T>G MANE Select	ENSP00000356379.4:p.Cys3177Trp
ENST00000680265.1:c.9753T>G	ENSP00000505384.1:p.Cys3251Trp
ENST00000680710.1:c.9507T>G	ENSP00000506676.1:p.Cys3169Trp
ENST00000294732.11:c.4776T>G	ENSP00000294732.7:p.Cys1592Trp
ENST00000367408.5:c.2526T>G	ENSP00000356378.1:p.Cys842Trp
ENST00000367409.8:c.9531T>G	ENSP00000356379.4:p.Cys3177Trp
ENST00000612785.1:c.3489T>G	ENSP00000479244.1:p.Cys1163Trp
NM_001206846.1:c.4776T>G	NP_001193775.1:p.Cys1592Trp
NM_018136.4:c.9531T>G	NP_060606.3:p.Cys3177Trp
NM_018136.5:c.9531T>G MANE Select	NP_060606.3:p.Cys3177Trp
NM_001206846.2:c.4776T>G	NP_001193775.1:p.Cys1592Trp