Canonical Allele Identifier: CA1310746

Gene: ASPM

Linked Data

• dbSNP Id: rs746525067
• ExAC: 1:197112118 C / T
• gnomAD v2: 1-197112118-C-T
• gnomAD v3: 1-197142988-C-T
• gnomAD v4: 1-197142988-C-T
• MyVariant Identifiers: chr1:g.197112118C>T (hg19) ; chr1:g.197142988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142988C>T , CM000663.2:g.197142988C>T	GRCh38
NC_000001.10:g.197112118C>T , CM000663.1:g.197112118C>T	GRCh37
NC_000001.9:g.195378741C>T	NCBI36
NG_015867.1:g.8707G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1264G>A MANE Select	ENSP00000356379.4:p.Val422Ile
ENST00000679766.1:n.1481G>A
ENST00000680265.1:c.1264G>A	ENSP00000505384.1:p.Val422Ile
ENST00000680710.1:c.1264G>A	ENSP00000506676.1:p.Val422Ile
ENST00000681879.1:c.1264G>A	ENSP00000505363.1:p.Val422Ile
ENST00000294732.11:c.1264G>A	ENSP00000294732.7:p.Val422Ile
ENST00000367409.8:c.1264G>A	ENSP00000356379.4:p.Val422Ile
ENST00000612785.1:c.561+703G>A	ENSP00000479244.1:n.561+703G>A
NM_001206846.1:c.1264G>A	NP_001193775.1:p.Val422Ile
NM_018136.4:c.1264G>A	NP_060606.3:p.Val422Ile
NM_018136.5:c.1264G>A MANE Select	NP_060606.3:p.Val422Ile
NM_001206846.2:c.1264G>A	NP_001193775.1:p.Val422Ile