Canonical Allele Identifier: CA343997506

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057422C>A (hg19) ; chr1:g.197088292C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088292C>A , CM000663.2:g.197088292C>A	GRCh38
NC_000001.10:g.197057422C>A , CM000663.1:g.197057422C>A	GRCh37
NC_000001.9:g.195324045C>A	NCBI36
NG_015867.1:g.63403G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3412G>T
ENST00000367409.9:c.10125G>T MANE Select	ENSP00000356379.4:p.Leu3375Phe
ENST00000680265.1:c.10347G>T	ENSP00000505384.1:p.Leu3449Phe
ENST00000680710.1:c.10101G>T	ENSP00000506676.1:p.Leu3367Phe
ENST00000294732.11:c.5370G>T	ENSP00000294732.7:p.Leu1790Phe
ENST00000367408.5:c.3120G>T	ENSP00000356378.1:p.Leu1040Phe
ENST00000367409.8:c.10125G>T	ENSP00000356379.4:p.Leu3375Phe
ENST00000612785.1:c.4083G>T	ENSP00000479244.1:p.Leu1361Phe
NM_001206846.1:c.5370G>T	NP_001193775.1:p.Leu1790Phe
NM_018136.4:c.10125G>T	NP_060606.3:p.Leu3375Phe
NM_018136.5:c.10125G>T MANE Select	NP_060606.3:p.Leu3375Phe
NM_001206846.2:c.5370G>T	NP_001193775.1:p.Leu1790Phe