Canonical Allele Identifier: CA1310033

Gene: ASPM

Linked Data

• dbSNP Id: rs758919365
• ExAC: 1:197087023 C / A
• gnomAD v2: 1-197087023-C-A
• gnomAD v4: 1-197117893-C-A
• COSMIC: COSM6060724
• MyVariant Identifiers: chr1:g.197087023C>A (hg19) ; chr1:g.197117893C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197117893C>A , CM000663.2:g.197117893C>A	GRCh38
NC_000001.10:g.197087023C>A , CM000663.1:g.197087023C>A	GRCh37
NC_000001.9:g.195353646C>A	NCBI36
NG_015867.1:g.33802G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2003G>T
ENST00000367409.9:c.3961G>T MANE Select	ENSP00000356379.4:p.Val1321Phe
ENST00000680265.1:c.3961G>T	ENSP00000505384.1:p.Val1321Phe
ENST00000680710.1:c.3961G>T	ENSP00000506676.1:p.Val1321Phe
ENST00000681879.1:c.4009G>T	ENSP00000505363.1:n.4009G>T
ENST00000294732.11:c.3961G>T	ENSP00000294732.7:p.Val1321Phe
ENST00000367408.5:c.1711G>T	ENSP00000356378.1:p.Val571Phe
ENST00000367409.8:c.3961G>T	ENSP00000356379.4:p.Val1321Phe
ENST00000612785.1:c.562-15246G>T	ENSP00000479244.1:n.562-15246G>T
NM_001206846.1:c.3961G>T	NP_001193775.1:p.Val1321Phe
NM_018136.4:c.3961G>T	NP_060606.3:p.Val1321Phe
NM_018136.5:c.3961G>T MANE Select	NP_060606.3:p.Val1321Phe
NM_001206846.2:c.3961G>T	NP_001193775.1:p.Val1321Phe