Canonical Allele Identifier: CA7472120

Gene: THBS1 FSIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39589871T>C , CM000677.2:g.39589871T>C	GRCh38
NC_000015.9:g.39882072T>C , CM000677.1:g.39882072T>C	GRCh37
NC_000015.8:g.37669364T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003246.4:c.1993T>C (THBS1) MANE Select	NP_003237.2:p.Tyr665His
ENST00000260356.6:c.1993T>C (THBS1) MANE Select	ENSP00000260356.5:p.Tyr665His
NM_003246.2:c.1993T>C (THBS1)	NP_003237.2:p.Tyr665His
NM_003246.3:c.1993T>C (THBS1)	NP_003237.2:p.Tyr665His
ENST00000260356.5:c.1993T>C (THBS1)	ENSP00000260356.5:p.Tyr665His
ENST00000642527.1:c.771-1297A>G (FSIP1)
XM_011521970.1:c.1993T>C (THBS1)	XP_011520272.1:p.Tyr665His
XM_011521971.1:c.1819T>C (THBS1)	XP_011520273.1:p.Tyr607His
XM_011521971.2:c.1819T>C (THBS1)	XP_011520273.1:p.Tyr607His
XR_931897.1:n.2168T>C (THBS1)