Canonical Allele Identifier: CA1310800

Gene: ASPM

Linked Data

• dbSNP Id: rs758286925
• ExAC: 1:197112532 C / CA
• gnomAD v2: 1-197112532-C-CA
• gnomAD v4: 1-197143402-C-CA
• MyVariant Identifiers: chr1:g.197112532_197112533insA (hg19) ; chr1:g.197143402_197143403insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143402_197143403insA , CM000663.2:g.197143402_197143403insA	GRCh38
NC_000001.10:g.197112532_197112533insA , CM000663.1:g.197112532_197112533insA	GRCh37
NC_000001.9:g.195379155_195379156insA	NCBI36
NG_015867.1:g.8292_8293insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.849_850insT MANE Select	ENSP00000356379.4:p.Val284CysfsTer4
ENST00000679766.1:n.1066_1067insT
ENST00000680265.1:c.849_850insT	ENSP00000505384.1:p.Val284CysfsTer4
ENST00000680710.1:c.849_850insT	ENSP00000506676.1:p.Val284CysfsTer4
ENST00000681879.1:c.849_850insT	ENSP00000505363.1:p.Val284CysfsTer4
ENST00000294732.11:c.849_850insT	ENSP00000294732.7:p.Val284CysfsTer4
ENST00000367409.8:c.849_850insT	ENSP00000356379.4:p.Val284CysfsTer4
ENST00000612785.1:c.561+288_561+289insT	ENSP00000479244.1:n.561+288_561+289insT
NM_001206846.1:c.849_850insT	NP_001193775.1:p.Val284CysfsTer4
NM_018136.4:c.849_850insT	NP_060606.3:p.Val284CysfsTer4
NM_018136.5:c.849_850insT MANE Select	NP_060606.3:p.Val284CysfsTer4
NM_001206846.2:c.849_850insT	NP_001193775.1:p.Val284CysfsTer4