Canonical Allele Identifier: CA344027435

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197073234T>G (hg19) ; chr1:g.197104104T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104104T>G , CM000663.2:g.197104104T>G	GRCh38
NC_000001.10:g.197073234T>G , CM000663.1:g.197073234T>G	GRCh37
NC_000001.9:g.195339857T>G	NCBI36
NG_015867.1:g.47591A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7940A>C
ENST00000367409.9:c.5147A>C MANE Select	ENSP00000356379.4:p.Lys1716Thr
ENST00000680265.1:c.5147A>C	ENSP00000505384.1:p.Lys1716Thr
ENST00000680710.1:c.5147A>C	ENSP00000506676.1:p.Lys1716Thr
ENST00000294732.11:c.4066-7940A>C	ENSP00000294732.7:n.4066-7940A>C
ENST00000367408.5:c.1816-7940A>C	ENSP00000356378.1:n.1816-7940A>C
ENST00000367409.8:c.5147A>C	ENSP00000356379.4:p.Lys1716Thr
ENST00000612785.1:c.562-1457A>C	ENSP00000479244.1:n.562-1457A>C
NM_001206846.1:c.4066-7940A>C	NP_001193775.1:n.4066-7940A>C
NM_018136.4:c.5147A>C	NP_060606.3:p.Lys1716Thr
NM_018136.5:c.5147A>C MANE Select	NP_060606.3:p.Lys1716Thr
NM_001206846.2:c.4066-7940A>C	NP_001193775.1:n.4066-7940A>C