Canonical Allele Identifier: CA343997252

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057392T>G (hg19) ; chr1:g.197088262T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088262T>G , CM000663.2:g.197088262T>G	GRCh38
NC_000001.10:g.197057392T>G , CM000663.1:g.197057392T>G	GRCh37
NC_000001.9:g.195324015T>G	NCBI36
NG_015867.1:g.63433A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3442A>C
ENST00000367409.9:c.10155A>C MANE Select	ENSP00000356379.4:p.Arg3385Ser
ENST00000680265.1:c.10377A>C	ENSP00000505384.1:p.Arg3459Ser
ENST00000680710.1:c.10131A>C	ENSP00000506676.1:p.Arg3377Ser
ENST00000294732.11:c.5400A>C	ENSP00000294732.7:p.Arg1800Ser
ENST00000367408.5:c.3150A>C	ENSP00000356378.1:p.Arg1050Ser
ENST00000367409.8:c.10155A>C	ENSP00000356379.4:p.Arg3385Ser
ENST00000612785.1:c.4113A>C	ENSP00000479244.1:p.Arg1371Ser
NM_001206846.1:c.5400A>C	NP_001193775.1:p.Arg1800Ser
NM_018136.4:c.10155A>C	NP_060606.3:p.Arg3385Ser
NM_018136.5:c.10155A>C MANE Select	NP_060606.3:p.Arg3385Ser
NM_001206846.2:c.5400A>C	NP_001193775.1:p.Arg1800Ser