Canonical Allele Identifier: CA7471934

Gene: THBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39588192A>C , CM000677.2:g.39588192A>C	GRCh38
NC_000015.9:g.39880393A>C , CM000677.1:g.39880393A>C	GRCh37
NC_000015.8:g.37667685A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.1445A>C MANE Select	ENSP00000260356.5:p.Lys482Thr
ENST00000260356.5:c.1445A>C	ENSP00000260356.5:p.Lys482Thr
ENST00000466755.1:n.220A>C
ENST00000497720.1:n.241A>C
NM_003246.2:c.1445A>C	NP_003237.2:p.Lys482Thr
NM_003246.3:c.1445A>C	NP_003237.2:p.Lys482Thr
XM_011521970.1:c.1445A>C	XP_011520272.1:p.Lys482Thr
XM_011521971.1:c.1445A>C	XP_011520273.1:p.Lys482Thr
XR_931897.1:n.1620A>C
XM_011521971.2:c.1445A>C	XP_011520273.1:p.Lys482Thr
NM_003246.4:c.1445A>C MANE Select	NP_003237.2:p.Lys482Thr