Canonical Allele Identifier: CA240942

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197117819T>C , CM000663.2:g.197117819T>C	GRCh38
NC_000001.10:g.197086949T>C , CM000663.1:g.197086949T>C	GRCh37
NC_000001.9:g.195353572T>C	NCBI36
NG_015867.1:g.33876A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.4035A>G MANE Select	NP_060606.3:p.Lys1345=
ENST00000367409.9:c.4035A>G MANE Select	ENSP00000356379.4:p.Lys1345=
NM_001206846.1:c.4035A>G	NP_001193775.1:p.Lys1345=
NM_001206846.2:c.4035A>G	NP_001193775.1:p.Lys1345=
NM_018136.4:c.4035A>G	NP_060606.3:p.Lys1345=
ENST00000294732.11:c.4035A>G	ENSP00000294732.7:p.Lys1345=
ENST00000367408.5:c.1785A>G	ENSP00000356378.1:p.Lys595=
ENST00000367408.6:n.2077A>G
ENST00000367409.8:c.4035A>G	ENSP00000356379.4:p.Lys1345=
ENST00000612785.1:c.562-15172A>G	ENSP00000479244.1:n.562-15172A>G
ENST00000680265.1:c.4035A>G	ENSP00000505384.1:p.Lys1345=
ENST00000680710.1:c.4035A>G	ENSP00000506676.1:p.Lys1345=
ENST00000681879.1:c.4083A>G	ENSP00000505363.1:n.4083A>G