Canonical Allele Identifier: CA344003689

Gene: ASPM

Linked Data

• gnomAD v4: 1-197091024-T-G
• MyVariant Identifiers: chr1:g.197060154T>G (hg19) ; chr1:g.197091024T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091024T>G , CM000663.2:g.197091024T>G	GRCh38
NC_000001.10:g.197060154T>G , CM000663.1:g.197060154T>G	GRCh37
NC_000001.9:g.195326777T>G	NCBI36
NG_015867.1:g.60671A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2749A>C
ENST00000367409.9:c.9462A>C MANE Select	ENSP00000356379.4:p.Arg3154Ser
ENST00000680265.1:c.9684A>C	ENSP00000505384.1:p.Arg3228Ser
ENST00000680710.1:c.9438A>C	ENSP00000506676.1:p.Arg3146Ser
ENST00000294732.11:c.4707A>C	ENSP00000294732.7:p.Arg1569Ser
ENST00000367408.5:c.2457A>C	ENSP00000356378.1:p.Arg819Ser
ENST00000367409.8:c.9462A>C	ENSP00000356379.4:p.Arg3154Ser
ENST00000612785.1:c.3420A>C	ENSP00000479244.1:p.Arg1140Ser
NM_001206846.1:c.4707A>C	NP_001193775.1:p.Arg1569Ser
NM_018136.4:c.9462A>C	NP_060606.3:p.Arg3154Ser
NM_018136.5:c.9462A>C MANE Select	NP_060606.3:p.Arg3154Ser
NM_001206846.2:c.4707A>C	NP_001193775.1:p.Arg1569Ser