Canonical Allele Identifier: CA344002892

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060078G>T (hg19) ; chr1:g.197090948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090948G>T , CM000663.2:g.197090948G>T	GRCh38
NC_000001.10:g.197060078G>T , CM000663.1:g.197060078G>T	GRCh37
NC_000001.9:g.195326701G>T	NCBI36
NG_015867.1:g.60747C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2825C>A
ENST00000367409.9:c.9538C>A MANE Select	ENSP00000356379.4:p.Gln3180Lys
ENST00000680265.1:c.9760C>A	ENSP00000505384.1:p.Gln3254Lys
ENST00000680710.1:c.9514C>A	ENSP00000506676.1:p.Gln3172Lys
ENST00000294732.11:c.4783C>A	ENSP00000294732.7:p.Gln1595Lys
ENST00000367408.5:c.2533C>A	ENSP00000356378.1:p.Gln845Lys
ENST00000367409.8:c.9538C>A	ENSP00000356379.4:p.Gln3180Lys
ENST00000612785.1:c.3496C>A	ENSP00000479244.1:p.Gln1166Lys
NM_001206846.1:c.4783C>A	NP_001193775.1:p.Gln1595Lys
NM_018136.4:c.9538C>A	NP_060606.3:p.Gln3180Lys
NM_018136.5:c.9538C>A MANE Select	NP_060606.3:p.Gln3180Lys
NM_001206846.2:c.4783C>A	NP_001193775.1:p.Gln1595Lys