Canonical Allele Identifier: CA344003709

Gene: ASPM

Linked Data

• gnomAD v4: 1-197091029-C-T
• MyVariant Identifiers: chr1:g.197060159C>T (hg19) ; chr1:g.197091029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091029C>T , CM000663.2:g.197091029C>T	GRCh38
NC_000001.10:g.197060159C>T , CM000663.1:g.197060159C>T	GRCh37
NC_000001.9:g.195326782C>T	NCBI36
NG_015867.1:g.60666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2744G>A
ENST00000367409.9:c.9457G>A MANE Select	ENSP00000356379.4:p.Ala3153Thr
ENST00000680265.1:c.9679G>A	ENSP00000505384.1:p.Ala3227Thr
ENST00000680710.1:c.9433G>A	ENSP00000506676.1:p.Ala3145Thr
ENST00000294732.11:c.4702G>A	ENSP00000294732.7:p.Ala1568Thr
ENST00000367408.5:c.2452G>A	ENSP00000356378.1:p.Ala818Thr
ENST00000367409.8:c.9457G>A	ENSP00000356379.4:p.Ala3153Thr
ENST00000612785.1:c.3415G>A	ENSP00000479244.1:p.Ala1139Thr
NM_001206846.1:c.4702G>A	NP_001193775.1:p.Ala1568Thr
NM_018136.4:c.9457G>A	NP_060606.3:p.Ala3153Thr
NM_018136.5:c.9457G>A MANE Select	NP_060606.3:p.Ala3153Thr
NM_001206846.2:c.4702G>A	NP_001193775.1:p.Ala1568Thr