Canonical Allele Identifier: CA211318125

Gene: STAMBPL1 ACTA2-AS1

Linked Data

• ClinVar Variation Id: 1198277
• ClinVar RCV Id: RCV001562372
• dbSNP Id: rs77086884
• gnomAD v2: 10-90694769-C-T
• gnomAD v3: 10-88935012-C-T
• gnomAD v4: 10-88935012-C-T
• MyVariant Identifiers: chr10:g.90694769C>T (hg19) ; chr10:g.88935012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88935012C>T , CM000672.2:g.88935012C>T	GRCh38
NC_000010.10:g.90694769C>T , CM000672.1:g.90694769C>T	GRCh37
NC_000010.9:g.90684749C>T	NCBI36
NG_011541.1:g.61379G>A , LRG_781:g.61379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371927.7:c.1254+12576C>T (STAMBPL1)	ENSP00000360995.3:n.1254+12576C>T
NR_125373.1:n.637C>T (ACTA2-AS1)