Canonical Allele Identifier: CA343998333

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057495T>A (hg19) ; chr1:g.197088365T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088365T>A , CM000663.2:g.197088365T>A	GRCh38
NC_000001.10:g.197057495T>A , CM000663.1:g.197057495T>A	GRCh37
NC_000001.9:g.195324118T>A	NCBI36
NG_015867.1:g.63330A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3339A>T
ENST00000367409.9:c.10052A>T MANE Select	ENSP00000356379.4:p.Gln3351Leu
ENST00000680265.1:c.10274A>T	ENSP00000505384.1:p.Gln3425Leu
ENST00000680710.1:c.10028A>T	ENSP00000506676.1:p.Gln3343Leu
ENST00000294732.11:c.5297A>T	ENSP00000294732.7:p.Gln1766Leu
ENST00000367408.5:c.3047A>T	ENSP00000356378.1:p.Gln1016Leu
ENST00000367409.8:c.10052A>T	ENSP00000356379.4:p.Gln3351Leu
ENST00000612785.1:c.4010A>T	ENSP00000479244.1:p.Gln1337Leu
NM_001206846.1:c.5297A>T	NP_001193775.1:p.Gln1766Leu
NM_018136.4:c.10052A>T	NP_060606.3:p.Gln3351Leu
NM_018136.5:c.10052A>T MANE Select	NP_060606.3:p.Gln3351Leu
NM_001206846.2:c.5297A>T	NP_001193775.1:p.Gln1766Leu