Canonical Allele Identifier: CA344027761

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197073316C>G (hg19) ; chr1:g.197104186C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104186C>G , CM000663.2:g.197104186C>G	GRCh38
NC_000001.10:g.197073316C>G , CM000663.1:g.197073316C>G	GRCh37
NC_000001.9:g.195339939C>G	NCBI36
NG_015867.1:g.47509G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8022G>C
ENST00000367409.9:c.5065G>C MANE Select	ENSP00000356379.4:p.Val1689Leu
ENST00000680265.1:c.5065G>C	ENSP00000505384.1:p.Val1689Leu
ENST00000680710.1:c.5065G>C	ENSP00000506676.1:p.Val1689Leu
ENST00000294732.11:c.4066-8022G>C	ENSP00000294732.7:n.4066-8022G>C
ENST00000367408.5:c.1816-8022G>C	ENSP00000356378.1:n.1816-8022G>C
ENST00000367409.8:c.5065G>C	ENSP00000356379.4:p.Val1689Leu
ENST00000612785.1:c.562-1539G>C	ENSP00000479244.1:n.562-1539G>C
NM_001206846.1:c.4066-8022G>C	NP_001193775.1:n.4066-8022G>C
NM_018136.4:c.5065G>C	NP_060606.3:p.Val1689Leu
NM_018136.5:c.5065G>C MANE Select	NP_060606.3:p.Val1689Leu
NM_001206846.2:c.4066-8022G>C	NP_001193775.1:n.4066-8022G>C