Canonical Allele Identifier: CA1310173

Gene: ASPM

Linked Data

• dbSNP Id: rs773164314
• ExAC: 1:197091723 C / CTT
• MyVariant Identifiers: chr1:g.197091723_197091724insTT (hg19) ; chr1:g.197122593_197122594insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122593_197122594insTT , CM000663.2:g.197122593_197122594insTT	GRCh38
NC_000001.10:g.197091723_197091724insTT , CM000663.1:g.197091723_197091724insTT	GRCh37
NC_000001.9:g.195358346_195358347insTT	NCBI36
NG_015867.1:g.29101_29102insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1434_1435insAA
ENST00000367409.9:c.3392_3393insAA MANE Select	ENSP00000356379.4:p.Glu1132ArgfsTer17
ENST00000680112.1:n.1448_1449insAA
ENST00000680265.1:c.3392_3393insAA	ENSP00000505384.1:p.Glu1132ArgfsTer17
ENST00000680710.1:c.3392_3393insAA	ENSP00000506676.1:p.Glu1132ArgfsTer17
ENST00000681879.1:c.3392_3393insAA	ENSP00000505363.1:p.Glu1132ArgfsTer17
ENST00000294732.11:c.3392_3393insAA	ENSP00000294732.7:p.Glu1132ArgfsTer17
ENST00000367408.5:c.1142_1143insAA	ENSP00000356378.1:p.Glu382ArgfsTer17
ENST00000367409.8:c.3392_3393insAA	ENSP00000356379.4:p.Glu1132ArgfsTer17
ENST00000612785.1:c.562-19947_562-19946insAA	ENSP00000479244.1:n.562-19947_562-19946insAA
NM_001206846.1:c.3392_3393insAA	NP_001193775.1:p.Glu1132ArgfsTer17
NM_018136.4:c.3392_3393insAA	NP_060606.3:p.Glu1132ArgfsTer17
NM_018136.5:c.3392_3393insAA MANE Select	NP_060606.3:p.Glu1132ArgfsTer17
NM_001206846.2:c.3392_3393insAA	NP_001193775.1:p.Glu1132ArgfsTer17