Canonical Allele Identifier: CA7472116

Gene: THBS1 FSIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39589843C>T , CM000677.2:g.39589843C>T	GRCh38
NC_000015.9:g.39882044C>T , CM000677.1:g.39882044C>T	GRCh37
NC_000015.8:g.37669336C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003246.4:c.1965C>T (THBS1) MANE Select	NP_003237.2:p.His655=
ENST00000260356.6:c.1965C>T (THBS1) MANE Select	ENSP00000260356.5:p.His655=
NM_003246.2:c.1965C>T (THBS1)	NP_003237.2:p.His655=
NM_003246.3:c.1965C>T (THBS1)	NP_003237.2:p.His655=
ENST00000260356.5:c.1965C>T (THBS1)	ENSP00000260356.5:p.His655=
ENST00000490247.1:n.431C>T (THBS1)
ENST00000642527.1:c.771-1269G>A (FSIP1)
XM_011521970.1:c.1965C>T (THBS1)	XP_011520272.1:p.His655=
XM_011521971.1:c.1791C>T (THBS1)	XP_011520273.1:p.His597=
XM_011521971.2:c.1791C>T (THBS1)	XP_011520273.1:p.His597=
XR_931897.1:n.2140C>T (THBS1)