Canonical Allele Identifier: CA1310807

Gene: ASPM

Linked Data

• dbSNP Id: rs755244024
• ExAC: 1:197112574 A / AT
• gnomAD v2: 1-197112574-A-AT
• gnomAD v4: 1-197143444-A-AT
• MyVariant Identifiers: chr1:g.197112574_197112575insT (hg19) ; chr1:g.197143444_197143445insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143444_197143445insT , CM000663.2:g.197143444_197143445insT	GRCh38
NC_000001.10:g.197112574_197112575insT , CM000663.1:g.197112574_197112575insT	GRCh37
NC_000001.9:g.195379197_195379198insT	NCBI36
NG_015867.1:g.8250_8251insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.807_808insA MANE Select	ENSP00000356379.4:p.Ser270IlefsTer3
ENST00000679766.1:n.1024_1025insA
ENST00000680265.1:c.807_808insA	ENSP00000505384.1:p.Ser270IlefsTer3
ENST00000680710.1:c.807_808insA	ENSP00000506676.1:p.Ser270IlefsTer3
ENST00000681879.1:c.807_808insA	ENSP00000505363.1:p.Ser270IlefsTer3
ENST00000294732.11:c.807_808insA	ENSP00000294732.7:p.Ser270IlefsTer3
ENST00000367409.8:c.807_808insA	ENSP00000356379.4:p.Ser270IlefsTer3
ENST00000612785.1:c.561+246_561+247insA	ENSP00000479244.1:n.561+246_561+247insA
NM_001206846.1:c.807_808insA	NP_001193775.1:p.Ser270IlefsTer3
NM_018136.4:c.807_808insA	NP_060606.3:p.Ser270IlefsTer3
NM_018136.5:c.807_808insA MANE Select	NP_060606.3:p.Ser270IlefsTer3
NM_001206846.2:c.807_808insA	NP_001193775.1:p.Ser270IlefsTer3