Canonical Allele Identifier: CA7471970

Gene: THBS1 FSIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39588604G>A , CM000677.2:g.39588604G>A	GRCh38
NC_000015.9:g.39880805G>A , CM000677.1:g.39880805G>A	GRCh37
NC_000015.8:g.37668097G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.1550G>A (THBS1) MANE Select	ENSP00000260356.5:p.Arg517His
ENST00000642527.1:c.771-30C>T (FSIP1)
ENST00000260356.5:c.1550G>A (THBS1)	ENSP00000260356.5:p.Arg517His
ENST00000497720.1:n.346G>A (THBS1)
NM_003246.2:c.1550G>A (THBS1)	NP_003237.2:p.Arg517His
NM_003246.3:c.1550G>A (THBS1)	NP_003237.2:p.Arg517His
XM_011521970.1:c.1550G>A (THBS1)	XP_011520272.1:p.Arg517His
XM_011521971.1:c.1472-355G>A (THBS1)	XP_011520273.1:n.1472-355G>A
XR_931897.1:n.1725G>A (THBS1)
XM_011521971.2:c.1472-355G>A (THBS1)	XP_011520273.1:n.1472-355G>A
NM_003246.4:c.1550G>A (THBS1) MANE Select	NP_003237.2:p.Arg517His