Canonical Allele Identifier: CA344018221

Gene: ASPM

Linked Data

• gnomAD v4: 1-197143288-C-T
• MyVariant Identifiers: chr1:g.197112418C>T (hg19) ; chr1:g.197143288C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143288C>T , CM000663.2:g.197143288C>T	GRCh38
NC_000001.10:g.197112418C>T , CM000663.1:g.197112418C>T	GRCh37
NC_000001.9:g.195379041C>T	NCBI36
NG_015867.1:g.8407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.964G>A MANE Select	ENSP00000356379.4:p.Val322Ile
ENST00000679766.1:n.1181G>A
ENST00000680265.1:c.964G>A	ENSP00000505384.1:p.Val322Ile
ENST00000680710.1:c.964G>A	ENSP00000506676.1:p.Val322Ile
ENST00000681879.1:c.964G>A	ENSP00000505363.1:p.Val322Ile
ENST00000294732.11:c.964G>A	ENSP00000294732.7:p.Val322Ile
ENST00000367409.8:c.964G>A	ENSP00000356379.4:p.Val322Ile
ENST00000612785.1:c.561+403G>A	ENSP00000479244.1:n.561+403G>A
NM_001206846.1:c.964G>A	NP_001193775.1:p.Val322Ile
NM_018136.4:c.964G>A	NP_060606.3:p.Val322Ile
NM_018136.5:c.964G>A MANE Select	NP_060606.3:p.Val322Ile
NM_001206846.2:c.964G>A	NP_001193775.1:p.Val322Ile