Canonical Allele Identifier: CA344018246

Gene: ASPM

Linked Data

• gnomAD v4: 1-197143293-G-A
• MyVariant Identifiers: chr1:g.197112423G>A (hg19) ; chr1:g.197143293G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143293G>A , CM000663.2:g.197143293G>A	GRCh38
NC_000001.10:g.197112423G>A , CM000663.1:g.197112423G>A	GRCh37
NC_000001.9:g.195379046G>A	NCBI36
NG_015867.1:g.8402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.959C>T MANE Select	ENSP00000356379.4:p.Ser320Phe
ENST00000679766.1:n.1176C>T
ENST00000680265.1:c.959C>T	ENSP00000505384.1:p.Ser320Phe
ENST00000680710.1:c.959C>T	ENSP00000506676.1:p.Ser320Phe
ENST00000681879.1:c.959C>T	ENSP00000505363.1:p.Ser320Phe
ENST00000294732.11:c.959C>T	ENSP00000294732.7:p.Ser320Phe
ENST00000367409.8:c.959C>T	ENSP00000356379.4:p.Ser320Phe
ENST00000612785.1:c.561+398C>T	ENSP00000479244.1:n.561+398C>T
NM_001206846.1:c.959C>T	NP_001193775.1:p.Ser320Phe
NM_018136.4:c.959C>T	NP_060606.3:p.Ser320Phe
NM_018136.5:c.959C>T MANE Select	NP_060606.3:p.Ser320Phe
NM_001206846.2:c.959C>T	NP_001193775.1:p.Ser320Phe