Canonical Allele Identifier: CA7471917

Gene: THBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39588108G>C , CM000677.2:g.39588108G>C	GRCh38
NC_000015.9:g.39880309G>C , CM000677.1:g.39880309G>C	GRCh37
NC_000015.8:g.37667601G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.1361G>C MANE Select	ENSP00000260356.5:p.Gly454Ala
ENST00000260356.5:c.1361G>C	ENSP00000260356.5:p.Gly454Ala
ENST00000466755.1:n.136G>C
ENST00000497720.1:n.157G>C
NM_003246.2:c.1361G>C	NP_003237.2:p.Gly454Ala
NM_003246.3:c.1361G>C	NP_003237.2:p.Gly454Ala
XM_011521970.1:c.1361G>C	XP_011520272.1:p.Gly454Ala
XM_011521971.1:c.1361G>C	XP_011520273.1:p.Gly454Ala
XR_931897.1:n.1536G>C
XM_011521971.2:c.1361G>C	XP_011520273.1:p.Gly454Ala
NM_003246.4:c.1361G>C MANE Select	NP_003237.2:p.Gly454Ala