Canonical Allele Identifier: CA10654464

Gene: STAMBPL1 ACTA2-AS1

Linked Data

• ClinVar Variation Id: 368929
• ClinVar RCV Id: RCV000294662 ; RCV000326308 ; RCV000389043
• dbSNP Id: rs367977687
• gnomAD v2: 10-90694822-C-T
• gnomAD v3: 10-88935065-C-T
• gnomAD v4: 10-88935065-C-T
• MyVariant Identifiers: chr10:g.90694822C>T (hg19) ; chr10:g.88935065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88935065C>T , CM000672.2:g.88935065C>T	GRCh38
NC_000010.10:g.90694822C>T , CM000672.1:g.90694822C>T	GRCh37
NC_000010.9:g.90684802C>T	NCBI36
NG_011541.1:g.61326G>A , LRG_781:g.61326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371927.7:c.1254+12629C>T (STAMBPL1)	ENSP00000360995.3:n.1254+12629C>T
NR_125373.1:n.690C>T (ACTA2-AS1)