Canonical Allele Identifier: CA2649661713
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197101086dup , CM000663.2:g.197101086dup GRCh38
NC_000001.10:g.197070216dup , CM000663.1:g.197070216dup GRCh37
NC_000001.9:g.195336839dup NCBI36
NG_015867.1:g.50609dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-4922dup
ENST00000367409.9:c.8165dup MANE Select ENSP00000356379.4:p.Tyr2722Ter
ENST00000680265.1:c.8165dup ENSP00000505384.1:p.Tyr2722Ter
ENST00000680710.1:c.8165dup ENSP00000506676.1:p.Tyr2722Ter
ENST00000294732.11:c.4066-4922dup ENSP00000294732.7:n.4066-4922dup
ENST00000367408.5:c.1816-4922dup ENSP00000356378.1:n.1816-4922dup
ENST00000367409.8:c.8165dup ENSP00000356379.4:p.Tyr2722Ter
ENST00000612785.1:c.2123dup ENSP00000479244.1:p.Tyr708Ter
NM_001206846.1:c.4066-4922dup NP_001193775.1:n.4066-4922dup
NM_018136.4:c.8165dup NP_060606.3:p.Tyr2722Ter
NM_018136.5:c.8165dup MANE Select NP_060606.3:p.Tyr2722Ter
NM_001206846.2:c.4066-4922dup NP_001193775.1:n.4066-4922dup