Canonical Allele Identifier: CA343998047

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057466C>T (hg19) ; chr1:g.197088336C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088336C>T , CM000663.2:g.197088336C>T	GRCh38
NC_000001.10:g.197057466C>T , CM000663.1:g.197057466C>T	GRCh37
NC_000001.9:g.195324089C>T	NCBI36
NG_015867.1:g.63359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3368G>A
ENST00000367409.9:c.10081G>A MANE Select	ENSP00000356379.4:p.Val3361Ile
ENST00000680265.1:c.10303G>A	ENSP00000505384.1:p.Val3435Ile
ENST00000680710.1:c.10057G>A	ENSP00000506676.1:p.Val3353Ile
ENST00000294732.11:c.5326G>A	ENSP00000294732.7:p.Val1776Ile
ENST00000367408.5:c.3076G>A	ENSP00000356378.1:p.Val1026Ile
ENST00000367409.8:c.10081G>A	ENSP00000356379.4:p.Val3361Ile
ENST00000612785.1:c.4039G>A	ENSP00000479244.1:p.Val1347Ile
NM_001206846.1:c.5326G>A	NP_001193775.1:p.Val1776Ile
NM_018136.4:c.10081G>A	NP_060606.3:p.Val3361Ile
NM_018136.5:c.10081G>A MANE Select	NP_060606.3:p.Val3361Ile
NM_001206846.2:c.5326G>A	NP_001193775.1:p.Val1776Ile