Canonical Allele Identifier: CA7472215

Gene: THBS1 FSIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39591322C>T , CM000677.2:g.39591322C>T	GRCh38
NC_000015.9:g.39883523C>T , CM000677.1:g.39883523C>T	GRCh37
NC_000015.8:g.37670815C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003246.4:c.2385C>T (THBS1) MANE Select	NP_003237.2:p.Asp795=
ENST00000260356.6:c.2385C>T (THBS1) MANE Select	ENSP00000260356.5:p.Asp795=
NM_003246.2:c.2385C>T (THBS1)	NP_003237.2:p.Asp795=
NM_003246.3:c.2385C>T (THBS1)	NP_003237.2:p.Asp795=
ENST00000260356.5:c.2385C>T (THBS1)	ENSP00000260356.5:p.Asp795=
ENST00000560894.1:n.395C>T (THBS1)
ENST00000642527.1:c.770+2733G>A (FSIP1)
XM_011521970.1:c.2385C>T (THBS1)	XP_011520272.1:p.Asp795=
XM_011521971.1:c.2211C>T (THBS1)	XP_011520273.1:p.Asp737=
XM_011521971.2:c.2211C>T (THBS1)	XP_011520273.1:p.Asp737=
XR_931897.1:n.2633C>T (THBS1)