Canonical Allele Identifier: CA35862165

Gene: ASPM

Linked Data

• dbSNP Id: rs376130761
• gnomAD v4: 1-197090850-C-T
• MyVariant Identifiers: chr1:g.197059980C>T (hg19) ; chr1:g.197090850C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090850C>T , CM000663.2:g.197090850C>T	GRCh38
NC_000001.10:g.197059980C>T , CM000663.1:g.197059980C>T	GRCh37
NC_000001.9:g.195326603C>T	NCBI36
NG_015867.1:g.60845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2923G>A
ENST00000367409.9:c.9636G>A MANE Select	ENSP00000356379.4:p.Gln3212=
ENST00000680265.1:c.9858G>A	ENSP00000505384.1:p.Gln3286=
ENST00000680710.1:c.9612G>A	ENSP00000506676.1:p.Gln3204=
ENST00000294732.11:c.4881G>A	ENSP00000294732.7:p.Gln1627=
ENST00000367408.5:c.2631G>A	ENSP00000356378.1:p.Gln877=
ENST00000367409.8:c.9636G>A	ENSP00000356379.4:p.Gln3212=
ENST00000612785.1:c.3594G>A	ENSP00000479244.1:p.Gln1198=
NM_001206846.1:c.4881G>A	NP_001193775.1:p.Gln1627=
NM_018136.4:c.9636G>A	NP_060606.3:p.Gln3212=
NM_018136.5:c.9636G>A MANE Select	NP_060606.3:p.Gln3212=
NM_001206846.2:c.4881G>A	NP_001193775.1:p.Gln1627=