Canonical Allele Identifier: CA344001903

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059465T>G (hg19) ; chr1:g.197090335T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090335T>G , CM000663.2:g.197090335T>G	GRCh38
NC_000001.10:g.197059465T>G , CM000663.1:g.197059465T>G	GRCh37
NC_000001.9:g.195326088T>G	NCBI36
NG_015867.1:g.61360A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2977A>C
ENST00000367409.9:c.9690A>C MANE Select	ENSP00000356379.4:p.Lys3230Asn
ENST00000680265.1:c.9912A>C	ENSP00000505384.1:p.Lys3304Asn
ENST00000680710.1:c.9666A>C	ENSP00000506676.1:p.Lys3222Asn
ENST00000294732.11:c.4935A>C	ENSP00000294732.7:p.Lys1645Asn
ENST00000367408.5:c.2685A>C	ENSP00000356378.1:p.Lys895Asn
ENST00000367409.8:c.9690A>C	ENSP00000356379.4:p.Lys3230Asn
ENST00000612785.1:c.3648A>C	ENSP00000479244.1:p.Lys1216Asn
NM_001206846.1:c.4935A>C	NP_001193775.1:p.Lys1645Asn
NM_018136.4:c.9690A>C	NP_060606.3:p.Lys3230Asn
NM_018136.5:c.9690A>C MANE Select	NP_060606.3:p.Lys3230Asn
NM_001206846.2:c.4935A>C	NP_001193775.1:p.Lys1645Asn