Canonical Allele Identifier: CA343998661

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057535C>G (hg19) ; chr1:g.197088405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088405C>G , CM000663.2:g.197088405C>G	GRCh38
NC_000001.10:g.197057535C>G , CM000663.1:g.197057535C>G	GRCh37
NC_000001.9:g.195324158C>G	NCBI36
NG_015867.1:g.63290G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3299G>C
ENST00000367409.9:c.10012G>C MANE Select	ENSP00000356379.4:p.Asp3338His
ENST00000680265.1:c.10234G>C	ENSP00000505384.1:p.Asp3412His
ENST00000680710.1:c.9988G>C	ENSP00000506676.1:p.Asp3330His
ENST00000294732.11:c.5257G>C	ENSP00000294732.7:p.Asp1753His
ENST00000367408.5:c.3007G>C	ENSP00000356378.1:p.Asp1003His
ENST00000367409.8:c.10012G>C	ENSP00000356379.4:p.Asp3338His
ENST00000612785.1:c.3970G>C	ENSP00000479244.1:p.Asp1324His
NM_001206846.1:c.5257G>C	NP_001193775.1:p.Asp1753His
NM_018136.4:c.10012G>C	NP_060606.3:p.Asp3338His
NM_018136.5:c.10012G>C MANE Select	NP_060606.3:p.Asp3338His
NM_001206846.2:c.5257G>C	NP_001193775.1:p.Asp1753His