Canonical Allele Identifier: CA391670239

Gene: THBS1 FSIP1

Linked Data

• dbSNP Id: rs776897123
• MyVariant Identifiers: chr15:g.39882090G>C (hg19) ; chr15:g.39589889G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39589889G>C , CM000677.2:g.39589889G>C	GRCh38
NC_000015.9:g.39882090G>C , CM000677.1:g.39882090G>C	GRCh37
NC_000015.8:g.37669382G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000260356.6:c.2011G>C (THBS1) MANE Select	ENSP00000260356.5:p.Asp671His
ENST00000642527.1:c.771-1315C>G (FSIP1)
ENST00000260356.5:c.2011G>C (THBS1)	ENSP00000260356.5:p.Asp671His
NM_003246.2:c.2011G>C (THBS1)	NP_003237.2:p.Asp671His
NM_003246.3:c.2011G>C (THBS1)	NP_003237.2:p.Asp671His
XM_011521970.1:c.2011G>C (THBS1)	XP_011520272.1:p.Asp671His
XM_011521971.1:c.1837G>C (THBS1)	XP_011520273.1:p.Asp613His
XR_931897.1:n.2186G>C (THBS1)
XM_011521971.2:c.1837G>C (THBS1)	XP_011520273.1:p.Asp613His
NM_003246.4:c.2011G>C (THBS1) MANE Select	NP_003237.2:p.Asp671His