Canonical Allele Identifier: CA344003701

Gene: ASPM

Linked Data

• dbSNP Id: rs1656766994
• gnomAD v4: 1-197091026-T-C
• MyVariant Identifiers: chr1:g.197060156T>C (hg19) ; chr1:g.197091026T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091026T>C , CM000663.2:g.197091026T>C	GRCh38
NC_000001.10:g.197060156T>C , CM000663.1:g.197060156T>C	GRCh37
NC_000001.9:g.195326779T>C	NCBI36
NG_015867.1:g.60669A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2747A>G
ENST00000367409.9:c.9460A>G MANE Select	ENSP00000356379.4:p.Arg3154Gly
ENST00000680265.1:c.9682A>G	ENSP00000505384.1:p.Arg3228Gly
ENST00000680710.1:c.9436A>G	ENSP00000506676.1:p.Arg3146Gly
ENST00000294732.11:c.4705A>G	ENSP00000294732.7:p.Arg1569Gly
ENST00000367408.5:c.2455A>G	ENSP00000356378.1:p.Arg819Gly
ENST00000367409.8:c.9460A>G	ENSP00000356379.4:p.Arg3154Gly
ENST00000612785.1:c.3418A>G	ENSP00000479244.1:p.Arg1140Gly
NM_001206846.1:c.4705A>G	NP_001193775.1:p.Arg1569Gly
NM_018136.4:c.9460A>G	NP_060606.3:p.Arg3154Gly
NM_018136.5:c.9460A>G MANE Select	NP_060606.3:p.Arg3154Gly
NM_001206846.2:c.4705A>G	NP_001193775.1:p.Arg1569Gly