Canonical Allele Identifier: CA343998685

Gene: ASPM

Linked Data

• dbSNP Id: rs2125087123
• MyVariant Identifiers: chr1:g.197057538A>C (hg19) ; chr1:g.197088408A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088408A>C , CM000663.2:g.197088408A>C	GRCh38
NC_000001.10:g.197057538A>C , CM000663.1:g.197057538A>C	GRCh37
NC_000001.9:g.195324161A>C	NCBI36
NG_015867.1:g.63287T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3296T>G
ENST00000367409.9:c.10009T>G MANE Select	ENSP00000356379.4:p.Tyr3337Asp
ENST00000680265.1:c.10231T>G	ENSP00000505384.1:p.Tyr3411Asp
ENST00000680710.1:c.9985T>G	ENSP00000506676.1:p.Tyr3329Asp
ENST00000294732.11:c.5254T>G	ENSP00000294732.7:p.Tyr1752Asp
ENST00000367408.5:c.3004T>G	ENSP00000356378.1:p.Tyr1002Asp
ENST00000367409.8:c.10009T>G	ENSP00000356379.4:p.Tyr3337Asp
ENST00000612785.1:c.3967T>G	ENSP00000479244.1:p.Tyr1323Asp
NM_001206846.1:c.5254T>G	NP_001193775.1:p.Tyr1752Asp
NM_018136.4:c.10009T>G	NP_060606.3:p.Tyr3337Asp
NM_018136.5:c.10009T>G MANE Select	NP_060606.3:p.Tyr3337Asp
NM_001206846.2:c.5254T>G	NP_001193775.1:p.Tyr1752Asp