Canonical Allele Identifier: CA7471975

Gene: THBS1 FSIP1

Linked Data

• ClinVar Variation Id: 403537
• ClinVar RCV Id: RCV000455296 ; RCV003972749
• dbSNP Id: rs2292305
• ExAC: 15:39880822 A / G
• gnomAD v2: 15-39880822-A-G
• gnomAD v3: 15-39588621-A-G
• gnomAD v4: 15-39588621-A-G
• MyVariant Identifiers: chr15:g.39880822A>G (hg19) ; chr15:g.39588621A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39588621A>G , CM000677.2:g.39588621A>G	GRCh38
NC_000015.9:g.39880822A>G , CM000677.1:g.39880822A>G	GRCh37
NC_000015.8:g.37668114A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000260356.6:c.1567A>G (THBS1) MANE Select	ENSP00000260356.5:p.Thr523Ala
ENST00000642527.1:c.771-47T>C (FSIP1)
ENST00000260356.5:c.1567A>G (THBS1)	ENSP00000260356.5:p.Thr523Ala
ENST00000497720.1:n.363A>G (THBS1)
NM_003246.2:c.1567A>G (THBS1)	NP_003237.2:p.Thr523Ala
NM_003246.3:c.1567A>G (THBS1)	NP_003237.2:p.Thr523Ala
XM_011521970.1:c.1567A>G (THBS1)	XP_011520272.1:p.Thr523Ala
XM_011521971.1:c.1472-338A>G (THBS1)	XP_011520273.1:n.1472-338A>G
XR_931897.1:n.1742A>G (THBS1)
XM_011521971.2:c.1472-338A>G (THBS1)	XP_011520273.1:n.1472-338A>G
NM_003246.4:c.1567A>G (THBS1) MANE Select	NP_003237.2:p.Thr523Ala